ANA BUJ BELLO

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Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study

Perry Shieh , Wendy Hughes , Marie Wood , Alan Beggs , Michael Lawlor et al.

Therapeutic Advances in Rare Disease, 2025, 6, ⟨10.1177/26330040251362885⟩

Article dans une revue (article de synthèse) hal-05454775v1

The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research

Joanne Bullivant , Anando Sen , Jess Page , Robert Graham , Heinz Jungbluth et al.

Neuromuscular Disorders, 2024, 35, pp.42-52. ⟨10.1016/j.nmd.2023.10.014⟩

Article dans une revue hal-04481563v1

Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis

Amelie Raby , Sonia Missiroli , Peggy Sanatine , Dominique Langui , Julien Pansiot et al.

iScience, 2024, 27 (9), pp.110683. ⟨10.1016/j.isci.2024.110683⟩

Article dans une revue (data paper) hal-04693917v1
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Perspectives thérapeutiques pour les maladies lysosomales dues au déficit en céramidase acide

Marion Derome , Jérôme Denard , Martina Marinello , Thierry Levade , Odile Boespflug-Tanguy et al.

Médecine/Sciences, 2024, 40, pp.52-55. ⟨10.1051/medsci/2024162⟩

Article dans une revue inserm-04994379v1

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Perry Shieh , Nancy Kuntz , James Dowling , Wolfgang Müller-Felber , Carsten Bönnemann et al.

The Lancet Neurology, 2023, 22 (12), pp.1125-1139. ⟨10.1016/S1474-4422(23)00313-7⟩

Article dans une revue hal-04482641v1
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Disrupted T-tubular network accounts for asynchronous calcium release in MTM1 deficient skeletal muscle

Peter Szentesi , Beatrix Dienes , Candice Kutchukian , Tamas Czirjak , Ana Buj-Bello et al.

The Journal of Physiology, 2023, 601 (1), pp.99-121. ⟨10.1113/JP283650⟩

Article dans une revue hal-04235120v1

Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle

Peter Szentesi , Beatrix Dienes , Candice Kutchukian , Tamas Czirjak , Ana Buj-Bello et al.

The Journal of Physiology, 2022, 601 (1), pp.99-121. ⟨10.1113/JP283650⟩

Article dans une revue hal-04481569v1

Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders

Jihad El Andari , Edith Renaud-Gabardos , Warut Tulalamba , Jonas Weinmann , Louise Mangin et al.

Science Advances , 2022, 8 (38), ⟨10.1126/sciadv.abn4704⟩

Article dans une revue hal-04273243v1
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Clémence Labasse , Guy Brochier , Ana-Lia Taratuto , Bruno Cadot , John Rendu et al.

Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩

Article dans une revue hal-03820052v1

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy

Martina Marinello , Jérémie Cosette , Caroline Bogni , Jérôme Denard , Daniel Stockholm et al.

Journal of visualized experiments : JoVE, 2021, 178, ⟨10.3791/63032-v⟩

Article dans une revue hal-04360377v1
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Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective

Mario Amendola , Aurélie Bedel , Ana Buj-Bello , Mathieu Carrara , Jean-Paul Concordet et al.

Human Gene Therapy, 2021, 32 (19-20), pp.1059-1075. ⟨10.1089/hum.2021.191⟩

Article dans une revue hal-03420183v1

AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy

J. B. Dupont , J. Guo , E. Renaud-Gabardos , K. Poulard , V. Latournerie et al.

Molecular Therapy, 2020, 28 (2), pp.382-393. ⟨10.1016/j.ymthe.2019.10.018⟩

Article dans une revue hal-02880796v1

X-linked myotubular myopathy: A prospective international natural history study

M. Annoussamy , C. Lilien , T. Gidaro , E. Gargaun , V. Che et al.

Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩

Article dans une revue hal-02880782v1
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Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers

Candice Kutchukian , Peter Szentesi , Bruno Allard , Ana Buj-Bello , Laszlo Csernoch et al.

Cell Calcium, 2019, 80, pp.91-100. ⟨10.1016/j.ceca.2019.04.004⟩

Article dans une revue hal-02325585v1
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Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice

Mirella Lo Scrudato , Karine Poulard , Célia Sourd , Stéphanie Tomé , Arnaud Klein et al.

Molecular Therapy, 2019, Epub ahead of print. ⟨10.1016/j.ymthe.2019.05.021⟩

Article dans une revue hal-02177548v1

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

N. Daniele , C. Moal , L. Julien , M. Marinello , T. Jamet et al.

Journal of Neuropathology and Experimental Neurology, 2018, 77, pp.282-295. ⟨10.1093/jnen/nly002⟩

Article dans une revue hal-02880793v1

CONGENITAL MYOPATHIES (CNM)

M. Annoussamy , C. Lilien , T. Gidaro , V. Chê , U. Schara et al.

Neuromuscular Disorders, 2018, 28, pp.S71. ⟨10.1016/J.NMD.2018.06.168⟩

Article dans une revue hal-03158303v1

Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches

V. Mariot , R. Joubert , C. Hourdé , L. Féasson , M. Hanna et al.

Neuromuscular Disorders, 2017, 27, pp.S97-S98. ⟨10.1016/J.NMD.2017.06.026⟩

Article dans une revue hal-03158871v1
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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

David Mack , Karine Poulard , Melissa Goddard , Virginie Latournerie , Jessica Snyder et al.

Molecular Therapy, 2017, 25 (4), pp.839-854. ⟨10.1016/j.ymthe.2017.02.004⟩

Article dans une revue hal-02179363v1

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

Matthew Elverman , Melissa Goddard , David Mack , Jessica Snyder , Michael Lawlor et al.

Muscle & nerve. Supplement., 2017, 56 (5), pp.943-953. ⟨10.1002/mus.25658⟩

Article dans une revue hal-02179358v1

New myotubular myopathy classification

C. Lilien , M. Annoussamy , T. Gidaro , E. Gargaun , V. Chê et al.

Neuromuscular Disorders, 2017, 27, pp.S169. ⟨10.1016/J.NMD.2017.06.277⟩

Article dans une revue hal-03158322v1

High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogs

J. Dupont , J. Guo , J. Gray , A. Buj-Bello , M. Childers et al.

Neuromuscular Disorders, 2017, 27, pp.S171. ⟨10.1016/J.NMD.2017.06.282⟩

Article dans une revue hal-03158351v1

Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathy

N. Danièle , C. Bogni , L. Julien , A. Piet , A. Vignaud et al.

Neuromuscular Disorders, 2017, 27, pp.S173. ⟨10.1016/J.NMD.2017.06.291⟩

Article dans une revue hal-03158867v1

Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure

V. Mariot , R. Joubert , C. Hourdé , L. Féasson , M. Hanna et al.

Neuromuscular Disorders, 2017, 27, pp.S231. ⟨10.1016/J.NMD.2017.06.490⟩

Article dans une revue hal-03158311v1

Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

M. Annoussamy , C. Lilien , T. Gidaro , E. Gargaun , V. Chê et al.

Neuromuscular Disorders, 2017, 27, pp.S170. ⟨10.1016/J.NMD.2017.06.280⟩

Article dans une revue hal-03158315v1
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Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Virginie Mariot , Romain Joubert , Christophe Hourdé , Léonard Féasson , Michael Hanna et al.

Nature Communications, 2017, 8 (1), pp.1859. ⟨10.1038/s41467-017-01486-4⟩

Article dans une revue hal-04481602v1

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons: Erratum

Ana Buj-Bello

Journal of Neuropathology and Experimental Neurology, 2016, 75 (5), pp.479.2-479. ⟨10.1093/JNEN/NLW029⟩

Article dans une revue hal-03158886v1

X-linked myotubular myopathy in ambulant patients

M. Annoussamy , V. Chë , C. Lilien , T. Gidaro , A. Daron et al.

Neuromuscular Disorders, 2016, 26, pp.S116. ⟨10.1016/J.NMD.2016.06.113⟩

Article dans une revue hal-03158878v1

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

N. Sabha , J. R. Volpatti , H. Gonorazky , A. Reifler , A. E. Davidson et al.

Journal of Clinical Investigation, 2016, 126 (9), pp.3613-25. ⟨10.1172/JCI86841⟩

Article dans une revue hal-02881017v1

Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy

R. Mansour , S. Severin , J. M. Xuereb , M. P. Gratacap , J. Laporte et al.

Biochemical and Biophysical Research Communications, 2016, 476 (3), pp.167-73. ⟨10.1016/j.bbrc.2016.04.127⟩

Article dans une revue istex hal-02880994v1

Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice

C. Kutchukian , M. Lo Scrudato , Y. Tourneur , K. Poulard , A. Vignaud et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (50), pp.14432-14437. ⟨10.1073/pnas.1604099113⟩

Article dans une revue hal-01850367v1

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy

Nicole Armbruster , Annalisa Lattanzi , Matthieu Jeavons , Laetitia van Wittenberghe , Bernard Gjata et al.

Molecular Therapy - Methods and Clinical Development, 2016, 3, pp.16060. ⟨10.1038/mtm.2016.60⟩

Article dans une revue hal-04481620v1

Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

M. Annoussamy , C. Lilien , T. Gidaro , E. Gargaun , V. Chê et al.

Neuromuscular Disorders, 2016, 26, pp.S116-S117. ⟨10.1016/J.NMD.2016.06.114⟩

Article dans une revue hal-03158286v1

498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy

Matthew Elverman , David Mack , Melissa Goddard , Jessica Snyder , Robert Grange et al.

Molecular Therapy, 2016, 24, pp.S198. ⟨10.1016/S1525-0016(16)33307-X⟩

Article dans une revue hal-03158883v1

AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy

N. Danièle , C. Moal , L. Julien , T. Jamet , R. Joubert et al.

Neuromuscular Disorders, 2016, 26, pp.S117. ⟨10.1016/J.NMD.2016.06.116⟩

Article dans une revue hal-03158877v1

Phosphatidylinositol 3-kinase inhibition restores Ca 2+ release defects and prolongs survival in myotubularin-deficient mice

Candice Kutchukian , Mirella Lo Scrudato , Yves Tourneur , Karine Poulard , Alban Vignaud et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (50), pp.14432-14437. ⟨10.1073/pnas.1604099113⟩

Article dans une revue hal-04481617v1
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

Michael Lawlor , Alan Beggs , Ana Buj-Bello , Martin Childers , James Dowling et al.

Journal of Neuropathology and Experimental Neurology, 2016, 75 (2), pp.102-110. ⟨10.1093/jnen/nlv020⟩

Article dans une revue inserm-04481509v1

Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy

Rana Mansour , Sonia Severin , Jean-Marie Xuereb , Marie-Pierre Gratacap , Jocelyn Laporte et al.

Biochemical and Biophysical Research Communications, 2016, 476 (3), pp.167-173. ⟨10.1016/j.bbrc.2016.04.127⟩

Article dans une revue istex hal-04481651v1
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Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy

Nicole Armbruster , Annalisa Lattanzi , Matthieu Jeavons , Laetitia van Wittenberghe , Bernard Gjata et al.

Molecular Therapy - Methods and Clinical Development, 2016, 3, pp.UNSP 16060. ⟨10.1038/mtm.2016.60⟩

Article dans une revue hal-01487810v1

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs

M. K. Childers , A. H. Beggs , A. Buj-Bello

Annals of translational medicine, 2015, 3 (17), pp.257. ⟨10.3978/j.issn.2305-5839.2015.10.01⟩

Article dans une revue hal-02880973v1

503. Minimally Effective Dose of Systemic AAV8-MTM1 Needed To Prolong Survival and Correct Severe Muscle Pathology in a Canine Model of X-Linked Myotubular Myopathy

David Mack , Karine Poulard , Melissa Goddard , Jessica Snyder , Robert Grange et al.

Molecular Therapy, 2015, 23, pp.S201. ⟨10.1016/S1525-0016(16)34112-0⟩

Article dans une revue hal-03159330v1

576. A Novel Gene Editing-Based Strategy for Myotonic Dystrophy Type 1

Mirella Lo Scrudato , Samia Martin , Geneviève Gourdon , Denis Furling , Ana Buj-Bello

Molecular Therapy, 2015, 23, pp.S229. ⟨10.1016/S1525-0016(16)34185-5⟩

Article dans une revue hal-03159325v1

Spatially Localized Disruptions of Voltage Activated Calcium Release in Mtm1-Deficient Muscle Fibers

Candice Kutchukian , Karine Poulard , Anna Buj-Bello , Vincent Jacquemond

Biophysical Journal, 2015, 108 (2), pp.504a-505a. ⟨10.1016/J.BPJ.2014.11.2761⟩

Article dans une revue hal-03159333v1

Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study

N. R'Guiba , M. Annoussamy , R. Cardas , C. Lilien , G. Ollivier et al.

Neuromuscular Disorders, 2015, 25, pp.S274. ⟨10.1016/J.NMD.2015.06.320⟩

Article dans une revue istex hal-03159323v1

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X‐linked myotubular myopathy

Aarti Sarwal , Michael Cartwright , Francis Walker , Erin Mitchell , Anna Buj-Bello et al.

Muscle & Nerve, 2014, 50 (4), pp.607-609. ⟨10.1002/mus.24294⟩

Article dans une revue hal-04481686v1

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy

A. Sarwal , M. S. Cartwright , F. O. Walker , E. Mitchell , A. Buj-Bello et al.

Muscle Nerve, 2014, 50 (4), pp.607-9. ⟨10.1002/mus.24294⟩

Article dans une revue hal-02881170v1

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

Martin Childers , Romain Joubert , Karine Poulard , Christel Moal , Robert Grange et al.

Science Translational Medicine, 2014, 6 (220), pp.220ra10-220ra10. ⟨10.1126/scitranslmed.3007523⟩

Article dans une revue hal-02180848v1

G.P.43

L. Buscara , R. Joubert , C. Moal , K. Poulard , Samia Martin et al.

Neuromuscular Disorders, 2014, 24 (9-10), pp.807-808. ⟨10.1016/J.NMD.2014.06.057⟩

Article dans une revue hal-03159341v1

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy

Aarti Sarwal , Michael Cartwright , Francis Walker , Erin Mitchell , Anna Buj-Bello et al.

Muscle & nerve. Supplement., 2014, 50 (4), pp.607-609. ⟨10.1002/MUS.24294⟩

Article dans une revue hal-03158246v1
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Phosphoinositide substrates of myotubularin affect voltage-activated Ca(2)(+) release in skeletal muscle

Estela González Rodríguez , Romain Lefebvre , Dóra Bodnár , Claude Legrand , Peter Szentesi et al.

Pflügers Archiv European Journal of Physiology, 2014, 466 (5), pp.973-85. ⟨10.1007/s00424-013-1346-5⟩

Article dans une revue hal-02881139v1

Gait characteristics in a canine model of X-linked myotubular myopathy

Melissa Goddard , Emily Burlingame , Alan H. Beggs , Anna Buj-Bello , Martin K. Childers et al.

Journal of the Neurological Sciences, 2014, 346 (1-2), pp.221-226. ⟨10.1016/j.jns.2014.08.032⟩

Article dans une revue hal-02180820v1

Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice

Michael Lawlor , Marissa Viola , Hui Meng , Rachel Edelstein , Fujun Liu et al.

American Journal of Pathology, 2014, 184 (6), pp.1831-1842. ⟨10.1016/j.ajpath.2014.03.003⟩

Article dans une revue hal-04481693v1

Gait characteristics in a canine model of X-linked myotubular myopathy

Melissa Goddard , Emily Burlingame , Alan Beggs , Anna Buj-Bello , Martin Childers et al.

Journal of the Neurological Sciences, 2014, 346 (1-2), pp.221-226. ⟨10.1016/j.jns.2014.08.032⟩

Article dans une revue hal-04481683v1

G.P.39

M. Annoussamy , H. Landy , D. Ramsdell , M. Nelken , F. Muntoni et al.

Neuromuscular Disorders, 2014, 24 (9-10), pp.806. ⟨10.1016/J.NMD.2014.06.053⟩

Article dans une revue hal-03159338v1

Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice

M. W. Lawlor , M. G. Viola , H. Meng , R. V. Edelstein , Franklin Liu et al.

Am J Pathol, 2014, 184 (6), pp.1831-42. ⟨10.1016/j.ajpath.2014.03.003⟩

Article dans une revue hal-02881169v1

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

M. W. Lawlor , D. Armstrong , M. G. Viola , J. J. Widrick , H. Meng et al.

Hum Mol Genet, 2013, 22 (8), pp.1525-38. ⟨10.1093/hmg/ddt003⟩

Article dans une revue hal-02881184v1

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

R. Joubert , A. Vignaud , M. Le , C. Moal , N. Messaddeq et al.

Hum Mol Genet, 2013, 22 (9), pp.1856-66. ⟨10.1093/hmg/ddt038⟩

Article dans une revue hal-02881178v1

Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle

Estela González Rodríguez , Romain Lefebvre , Dóra Bodnár , Claude Legrand , Peter Szentesi et al.

Pflügers Archiv European Journal of Physiology, 2013, 466 (5), pp.973-985. ⟨10.1007/s00424-013-1346-5⟩

Article dans une revue hal-04481702v1

O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy

R. Joubert , C. Moal , A. Vignaud , S. Martín , I. Richard et al.

Neuromuscular Disorders, 2013, 23 (9-10), pp.741. ⟨10.1016/J.NMD.2013.06.384⟩

Article dans une revue istex hal-03159348v1

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

Romain Joubert , Alban Vignaud , Mickaël Le , Christelle Moal , Nadia Messaddeq et al.

Human Molecular Genetics, 2013, 22 (9), pp.1856-1866. ⟨10.1093/hmg/ddt038⟩

Article dans une revue hal-04481707v1

198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands

Heinz Jungbluth , Carina Wallgren-Pettersson , Jocelyn Laporte , Ana Buj-Bello

Neuromuscular Disorders, 2013, 23 (12), pp.1033-1043. ⟨10.1016/J.NMD.2013.08.006⟩

Article dans une revue hal-03158200v1

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

Romain Joubert , Alban Vignaud , Mickaël Le , Christelle Moal , Nadia Messaddeq et al.

Human Molecular Genetics, 2013, 22 (9), pp.1856-1866. ⟨10.1093/hmg/ddt038⟩

Article dans une revue hal-04481705v1

P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice

N. Danièle , T. Jamet , C. Moal , R. Joubert , N. Messaddeq et al.

Neuromuscular Disorders, 2013, 23 (9-10), pp.760. ⟨10.1016/J.NMD.2013.06.440⟩

Article dans une revue istex hal-03159360v1

Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment

Michael Lawlor , Matthew Alexander , Marissa Viola , Hui Meng , Romain Joubert et al.

American Journal of Pathology, 2012, 181 (3), pp.961-968. ⟨10.1016/j.ajpath.2012.05.016⟩

Article dans une revue hal-04481713v1

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

C. R. Pierson , A. N. Dulin-Smith , A. N. Durban , M. L. Marshall , J. T. Marshall et al.

Hum Mol Genet, 2012, 21 (4), pp.811-25. ⟨10.1093/hmg/ddr512⟩

Article dans une revue hal-02881147v1

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

Christopher Pierson , Ashley Dulin-Smith , Ashley Durban , Morgan Marshall , Jordan Marshall et al.

Human Molecular Genetics, 2012, 21 (4), pp.811-825. ⟨10.1093/hmg/ddr512⟩

Article dans une revue hal-04481743v1

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

J. J. Dowling , R. Joubert , S. E. Low , A. N. Durban , N. Messaddeq et al.

Disease Models & Mechanisms, 2012, 5 (6), pp.852-9. ⟨10.1242/dmm.009746⟩

Article dans une revue hal-02881204v1

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment

M. W. Lawlor , M. S. Alexander , M. G. Viola , H. Meng , R. Joubert et al.

Am J Pathol, 2012, 181 (3), pp.961-8. ⟨10.1016/j.ajpath.2012.05.016⟩

Article dans une revue hal-02881205v1

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice

M. W. Lawlor , B. P. Read , R. Edelstein , N. Yang , C. R. Pierson et al.

Am J Pathol, 2011, 178 (2), pp.784-93. ⟨10.1016/j.ajpath.2010.10.035⟩

Article dans une revue hal-02881134v1

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

Michael Lawlor , Benjamin Read , Rachel Edelstein , Nicole Yang , Christopher Pierson et al.

American Journal of Pathology, 2011, 178 (2), pp.784-793. ⟨10.1016/j.ajpath.2010.10.035⟩

Article dans une revue hal-04481748v1

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

Alan Beggs , Johann Böhm , Elizabeth Snead , Marek Kozlowski , Marie Maurer et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (33), pp.14697-14702. ⟨10.1073/pnas.1003677107⟩

Article dans une revue hal-04481752v1

P1.44 Neuromuscular junction abnormalities and myotubular myopathy

J.J. Dowling , A.N. Dulin-Smith , K. Poulard , L. Fries , A. Buj-Bello et al.

Neuromuscular Disorders, 2010, 20 (9-10), pp.613-614. ⟨10.1016/J.NMD.2010.07.059⟩

Article dans une revue istex hal-03159367v1

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

Verity Mcclelland , Thomas Cullup , Istvan Bodi , Deborah Ruddy , Anna Buj-Bello et al.

American Journal of Medical Genetics Part A, 2010, 152A (3), pp.741-747. ⟨10.1002/ajmg.a.33296⟩

Article dans une revue istex hal-04481753v1

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

Verity Mcclelland , Thomas Cullup , Istvan Bodi , Deborah Ruddy , Anna Buj-Bello et al.

American Journal of Medical Genetics Part A, 2010, 152A (3), pp.741-747. ⟨10.1002/AJMG.A.33296⟩

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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Alan H. Beggs , Johann Böhm , Elizabeth Snead , Marek Kozlowski , Marie Maurer et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (33), pp.14697-702. ⟨10.1073/pnas.1003677107⟩

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Impaired Sarcoplasmic Reticulum Calcium Release In Skeletal Muscle Fibers From Myotubularin-Deficient Mice

Norbert Weiss , Lama Al-Qusairi , Celine Berbey , Bruno Allard , Jean Louis Mandel et al.

Biophysical Journal, 2009, 96 (3), pp.10a. ⟨10.1016/J.BPJ.2008.12.950⟩

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T.P.5.05 Muscle-specific expression of myotubularin ameliorates the phenotype of targeted muscles in mouse models of X-linked myotubular myopathy

T. Jamet , F. Fougerousse , N. Guerchet , A. Douar , J.L. Mandel et al.

Neuromuscular Disorders, 2009, 19 (8-9), pp.617. ⟨10.1016/J.NMD.2009.06.230⟩

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Lama Al-Qusairi , Norbert Weiss , Anne Toussaint , Céline Berbey , Nadia Messaddeq et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (44), pp.18763-18768. ⟨10.1073/pnas.0900705106⟩

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G.P.12.02 T-tubule disorganisation and defective excitation–contraction coupling in muscle fibres lacking myotubularin lipid phosphatase

L. Al-Qusairi , N. Weiss , C. Berbey , N. Messaddeq , C. Kretz et al.

Neuromuscular Disorders, 2009, 19 (8-9), pp.635-636. ⟨10.1016/J.NMD.2009.06.286⟩

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

L. Al-Qusairi , N. Weiss , A. Toussaint , C. Berbey , N. Messaddeq et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (44), pp.18763-18768. ⟨10.1073/PNAS.0900705106⟩

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AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

Anna Buj-Bello , Françoise Fougerousse , Yannick Schwab , Nadia Messaddeq , Danièle Spehner et al.

Human Molecular Genetics, 2008, 17 (14), pp.2132-2143. ⟨10.1093/hmg/ddn112⟩

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G.P.9.11 Histopathological findings in Vici syndrome

V.M. Mcclelland , O. Miller , W. Jan , L. Amaya , A. Buj-Bello et al.

Neuromuscular Disorders, 2008, 18 (9-10), pp.788-789. ⟨10.1016/J.NMD.2008.06.223⟩

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Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Heinz Jungbluth , Haiyan Zhou , Caroline A Sewry , Stephanie Robb , Susan Treves et al.

Neuromuscular Disorders, 2007, 17 (4), pp.338-45. ⟨10.1016/j.nmd.2007.01.016⟩

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C.P.1.10 Molecular mechanisms underlying X-linked myotubular myopathy

D. Sanoudou , C. Kretz , A. Beggs , J. Laporte , A. Buj-Bello et al.

Neuromuscular Disorders, 2007, 17 (9-10), pp.836-837. ⟨10.1016/J.NMD.2007.06.255⟩

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CXorf6 is a causative gene for hypospadias.

Maki Fukami , Yuka Wada , Kanako Miyabayashi , Ichizo Nishino , Tomonobu Hasegawa et al.

Nature Genetics, 2006, 38 (12), pp.1369-71. ⟨10.1038/ng1900⟩

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Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Edmar Zanoteli , Jocelyn Laporte , José C C Rocha , Christine Kretz , Acary S B Oliveira et al.

American Journal of Medical Genetics Part A, 2005, 134 (3), pp.338-40. ⟨10.1002/ajmg.a.30574⟩

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Myogenic defects in myotonic dystrophy

Jeffrey Amack , Mani Mahadevan , Ana Buj-Bello

Developmental Biology, 2004, 265 (2), pp.294-301. ⟨10.1016/J.YDBIO.2003.07.021⟩

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Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin

Helene Tronchere , A. Buj-Bello , Jean-Louis Mandel , Bernard Payrastre

Cellular and Molecular Life Sciences, 2003, 60 (10), pp.2084-2099. ⟨10.1007/S00018-003-3062-3⟩

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Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

H Jungbluth , C.A Sewry , A. Buj-Bello , M Kristiansen , K.H Ørstavik et al.

Neuromuscular Disorders, 2003, 13 (1), pp.55-59. ⟨10.1016/S0960-8966(02)00194-3⟩

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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

Valérie Biancalana , Olivier Caron , Sabina Gallati , Frank Baas , Wolfram Kress et al.

Human Genetics, 2003, 112 (2), pp.135-142. ⟨10.1007/s00439-002-0869-1⟩

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Genotype–phenotype correlations in X-linked myotubular myopathy

Meriel Mcentagart , Gretchen Parsons , Anna Buj-Bello , Valérie Biancalana , Iain Fenton et al.

Neuromuscular Disorders, 2002, 12 (10), pp.939-946. ⟨10.1016/S0960-8966(02)00153-0⟩

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The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

Ana Buj-Bello , Vincent Laugel , Nadia Messaddeq , Hala Zahreddine , Jocelyn Laporte et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002, 99 (23), pp.15060-15065. ⟨10.1073/PNAS.212498399⟩

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Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

Anna Buj-Bello , Denis Furling , Hélène Tronchère , Jocelyn Laporte , Thierry Lerouge et al.

Human Molecular Genetics, 2002, 11 (19), pp.2297-2307. ⟨10.1093/hmg/11.19.2297⟩

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Paracrine interactions of BDNF involving NGF-dependent embryonic sensory neurons

Michelle Robinson , Ana Buj-Bello , Alun M. Davies

Molecular and Cellular Neuroscience, 2002

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The myotubularin family: from genetic disease to phosphoinositide metabolism

Jocelyn Laporte , François Blondeau , Anna Buj-Bello , Jean-Louis Mandel

Trends in Genetics, 2001, 17 (4), pp.221-228. ⟨10.1016/S0168-9525(01)02245-4⟩

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MTM1 mutations in X-linked myotubular myopathy

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Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin

Alison Forgie , Epaminondas Doxakis , Anna Buj-Bello , Sean Wyatt , Alun Davies

Molecular and Cellular Neuroscience, 1999, 13 (6), pp.430-440. ⟨10.1006/mcne.1999.0760⟩

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Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin

Alison Forgie , Epaminondas Doxakis , Anna Buj-Bello , Sean Wyatt , Alun Davies

Molecular and Cellular Neuroscience, 1999, 13 (6), pp.430-440. ⟨10.1006/MCNE.1999.0760⟩

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Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

Anna Buj-Bello , Valérie Biancalana , Céline Moutou , Jocelyn Laporte , Jean-Louis Mandel Article dans une revue istex hal-03157883v1

GFRα-4, a New GDNF Family Receptor

Jane Thompson , Epaminondas Doxakis , Luzia G.P. Piñón , Philip Strachan , Anna Buj-Bello et al.

Molecular and Cellular Neuroscience, 1998, 11 (3), pp.117-126. ⟨10.1006/mcne.1998.0682⟩

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Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human

Jocelyn Laporte , François Blondeau , Anna Buj-Bello , Dmitry Tentler , Christine Kretz et al.

Human Molecular Genetics, 1998, 7 (11), pp.1703-1712. ⟨10.1093/HMG/7.11.1703⟩

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GFRα-4, a New GDNF Family Receptor

Jane Thompson , Epaminondas Doxakis , Luzia G.P. Piñón , Philip Strachan , Anna Buj-Bello et al.

Molecular and Cellular Neuroscience, 1998, 11 (3), pp.117-126. ⟨10.1006/MCNE.1998.0682⟩

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Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase

Anna Buj-Bello , Jimi Adu , Luzia Piñón , Antony Horton , Jane Thompson et al.

Nature, 1997, 387 (6634), pp.721-724. ⟨10.1038/42729⟩

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Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase

Anna Buj-Bello , Jimi Adu , Luzia Piñón , Antony Horton , Jane Thompson et al.

Nature, 1997, 387 (6634), pp.721-724. ⟨10.1038/42729⟩

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Characterization of a multicomponent receptor for GDNF

James Treanor , Laurie Goodman , Frederic de Sauvage , Donna Stone , Kris Poulsen et al.

Nature, 1996, 382 (6586), pp.80-83. ⟨10.1038/382080a0⟩

Article dans une revue istex hal-04481918v1

Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons

Michelle Robinson , Anna Buj-Bello , Alun Davies

Molecular and Cellular Neuroscience, 1996, 7 (2), pp.143-151. ⟨10.1006/mcne.1996.0011⟩

Article dans une revue istex hal-04481920v1

Leukemia inhibitory factor and ciliary neurotrophic factor in sensory neuron development

Anthony R Horton , Alun M. Davies , Ana Buj-Bello , P Bartlett , M Murphy

Perspectives on developmental neurobiology, 1996, 4 (1), pp.35-38

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Characterization of a multicomponent receptor for GDNF

James Treanor , Laurie Goodman , Frederic de Sauvage , Donna Stone , Kris Poulsen et al.

Nature, 1996, 382 (6586), pp.80-83. ⟨10.1038/382080A0⟩

Article dans une revue istex hal-03156243v1

Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons

Michelle Robinson , Anna Buj-Bello , Alun Davies

Molecular and Cellular Neuroscience, 1996, 7 (2), pp.143-151. ⟨10.1006/MCNE.1996.0011⟩

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GDNF is an age-specific survival factor for sensory and autonomic neurons

Anna Buj-Bello , Vladimir Buchman , Antony Horton , Arnon Rosenthal , Alun Davies

Neuron, 1995, 15 (4), pp.821-828. ⟨10.1016/0896-6273(95)90173-6⟩

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GDNF is an age-specific survival factor for sensory and autonomic neurons

Anna Buj-Bello , Vladimir Buchman , Antony Horton , Arnon Rosenthal , Alun Davies

Neuron, 1995, 15 (4), pp.821-828. ⟨10.1016/0896-6273(95)90173-6⟩

Article dans une revue hal-04481921v1

The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development

Anna Buj-Bello , Luzia Pinon , Alun Davies

Development (Cambridge, England), 1994, 120 (6), pp.1573-1580. ⟨10.1242/dev.120.6.1573⟩

Article dans une revue hal-04482600v1

The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development

Anna Buj-Bello , Luzia Pinon , Alun Davies

Development (Cambridge, England), 1994, 120 (6), pp.1573-1580. ⟨10.1242/dev.120.6.1573⟩

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Rat model of X-linked myotubular myopathy with pathological signs in skeletal muscles and liver

Paloma Navas-Navarro , Edith Renaud-Gabardos , Badih Salman , Louise Mangin , Hélène Benyamine et al.

World Muscle Society, Oct 2025, Vienne & Online, Austria

Poster de conférence hal-05312314v1

Treatment of myotonic dystrophy type 1 with CRISPR/Cas9

Paloma Navas-Navarro , Hélène Benyamine , Lucie Vezzana , Aline Huguet-Lachon , Geneviève Gourdon et al.

Myology 2024, Apr 2024, Paris, France

Poster de conférence hal-04567285v1

AAV-mediated gene therapy corrects the severe phenotype of acid ceramidase deficient mice

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Marion Derome et al.

ASGCT 2023, May 2023, Los Ageles, United States

Poster de conférence hal-04453843v1

AAVpo1.A1 vectors for gene transfer in muscles and spinal motoneurons

Edith Renaud-Gabardos , Celia Sourd , Louise Mangin , Martina Marinello , Paloma Navas-Navarro et al.

Myology, Sep 2022, Nice, France

Poster de conférence hal-04426946v1

AAV-mediated delivery of mutated myostatin propeptide appears insufficient to ameliorate the muscle phenotype of Acta1(H40Y) mice

Janek Hyzewicz , Isabelle Lefort , Nicolas Guerchet , Ana Buj-Bello

Myology 2022, Sep 2022, Nice, France

Poster de conférence hal-04443105v1

Bioengineered AAV vectors with increased skeletal muscle potency and specificity for systemic gene therapy

Edith Renaud-Gabardos , Jihad El Andari , Louise Mangin , Jonas Weinmann , Esther Attebi et al.

American Society of Gene & Cell Therapy 2022, May 2022, Washington DC, United States

Poster de conférence hal-04442173v1

An AAVpo1.A1 vector expressing MTM1 corrects skeletal muscle pathology with detargeted liver transduction in myotubular myopathy mice

Edith Renaud-Gabardos , Celia Sourd , Louise Mangin , Paloma Navas-Navarro , Guillaume Corre et al.

EMBO, Apr 2022, Gouvieux, France

Poster de conférence hal-04426920v1

Peptide-displaying chimeric AAV vectors with increased skeletal muscle potency and liver detargeting for systemic gene therapy

Edith Renaud-Gabardos , Jihad El Andari , Louise Mangin , Jonas Weinmann , Esther Attebi et al.

Myology 2022, Sep 2022, Nice, France

Poster de conférence hal-04442190v1

Characterization of pathological features in skeletal muscles of acid ceramidase deficient mice and correction by gene therapy

Marion Derome , Jérôme Denard , Delphine Bonnin , Virginie Latournerie , Jeffrey A. Medin et al.

MYOLOGY 2022, Sep 2022, Nice, France

Poster de conférence hal-04484331v1

Characterization of pathological features in skeletal muscles of acid ceramidase deficient mice and correction by gene therapy

Marion Derome , Jérôme Denard , Delphine Bonnin , Virginie Latournerie , Jeffrey A. Medin et al.

19èmes journées de la Société Française de Myologie, Nov 2022, Toulouse, France

Poster de conférence hal-04484348v1

AAV-mediated gene therapy of acid ceramidase deficiency

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Marion Derome et al.

Myology 2022, Sep 2022, Nice, France

Poster de conférence hal-04453834v1

AAV-mediated gene therapy of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Karine Poulard et al.

ASGCT 2022, May 2022, Washinghton DC, United States

Poster de conférence hal-04453821v1

Bioengineered AAV vectors with increased skeletal muscle potency and specificity for systemic gene therapy of myotubular myopathy

Edith Renaud-Gabardos , Elandari Jihad , Louise Mangin , Weinmann Jonas , Esther Attebi et al.

ESGCT, 2021, PARIS, France

Poster de conférence hal-04488882v1

Administration of a recombinant AAVpo1A1 vector expressing MTM1 corrects skeletal muscle pathology with detargeted liver transduction in myotubular myopathy mice

Edith Renaud-Gabardos , Célia Sourd , Louise Mangin , Paloma Navas-Navarro , Jonas Weinmann et al.

ESGCT, Oct 2021, Online, France

Poster de conférence hal-04484212v1

Biodistribution of AAVpo1 and AAVpo1A1 in mice with myotubular myopathy

Edith Renaud-Gabardos , Paloma Navas-Navarro , Jihad El Andari , Louise Mangin , Karine Poulard et al.

American Society of Gene & Cell Therapy 2020, May 2020, Boston (MA), United States

Poster de conférence hal-04442079v1

Ca2+-induced Ca2+ release in myotubularin-deficient muscle fibers.

Candice Kutchukian , P. Péter Szentesi , Bruno Allard , Ana Buj-Bello , László Csernoch et al.

Myology 2019, Mar 2019, Bordeaux, France

Poster de conférence hal-02349517v1

In vivo genome editing mediates resection of the CTG repeat expansion and decreases pathological signs in a mouse model of myotonic dystrophy type 1

Mirella Lo Scrutado , Karine Poulard , C. Sourd , Stéphanie Tomé , Arnaud F Klein et al.

6th International Congress of Myology, Mar 2019, Bordeaux, France

Poster de conférence hal-04020115v1

A novel gene editing-based strategy for type 1 myotonic dystrophy

Mirella Lo Scrudato , Karine Poulard , Arnaud F Klein , Stéphanie Tomé , Geneviève Gourdon et al.

Annual Congress of the
 World Muscle Society, Oct 2017, Saint Malo, France

Poster de conférence hal-04010235v1

Vectors for the treatment of acid ceramidase deficiency

Jérôme Denard , Martina Marinello , Ana Buj-Bello

France, Patent n° : WO/2021/209521. 2021

Brevet hal-04455484v1

Vectors for the treatment of acid ceramidase deficiency

Ana Buj-Bello , Martina Marinello , Jérôme Denard

France, Patent n° : EP20169463.5. 2020

Brevet hal-04482824v1

Use of a synthetic AAV capsid for gene therapy of muscle and central nervous system disorders

Ana Buj-Bello , Edith Renaud-Gabardos

France, Patent n° : EP20305412.7. 2020

Brevet hal-04482827v1

Expression cassettes for gene therapy vectors

Ana Buj-Bello , Martina Marinello

France, Patent n° : EP18306836.0. 2018

Brevet inserm-04482820v1

Antisens ciblant la dynamine 2 notamment pour le traitement des myopathies centronucléaires

Ana Buj-Bello

France, Patent n° : EP17305431.3. 2017

Brevet hal-04482858v1

Treatment of spinal muscular atrophy

Ana Buj-Bello , Martina Marinello , Samia Martin

France, Patent n° : EP17305895.9. 2017

Brevet hal-04482859v1

Compositions and methods for the treatment of myotonic dystrophy

Ana Buj-Bello , Mirella Lo Scrudato

France, Patent n° : EP16306426.4. 2016

Brevet hal-04482855v1

Compositions and methods for the treatment of myotonic dystrophy

Ana Buj-Bello , Mirella Lo Scrudato

France, Patent n° : EP16306427.2. 2016

Brevet hal-04482857v1

Compositions and methods for the treatment of nucleotide repeat expansion disorders

Ana Buj-Bello , Mirella Lo Scrudato

France, Patent n° : US62/153,633. 2015

Brevet hal-04482854v1

Selective gene therapy expression system

Ana Buj-Bello , Isabelle Richard

France, Patent n° : US20160058890A1. 2013

Brevet hal-04482863v1

Systemic Gene Replacement Therapy for Treatment of X-Linked MyoTubular Myopathy (XLMTM)

Martin K. Childers , Alan H. Beggs , Ana Buj-Bello

France, Patent n° : US20140249211A1. 2013

Brevet hal-04482861v1