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Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies

Laetitia Miguel , Anne Rovelet-Lecrux , Pascal Chambon , Géraldine Joly-Helas , Stéphane Rousseau
Stem Cell Research, 2022, 61, pp.102762. ⟨10.1016/j.scr.2022.102762⟩
Journal articles hal-03622429v1
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Youmna Ghaleb , Sandy Elbitar , Anne Philippi , Petra El Khoury , Yara Azar
Metabolites, 2022, 12 (3), pp.262. ⟨10.3390/metabo12030262⟩
Journal articles hal-03642664v1
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ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria

Colin P Farrell , Gaël Nicolas , Robert Desnick , Charles J Parker , Jerome Lamoril
Blood Advances, 2022, 6 (3), pp.760-766. ⟨10.1182/bloodadvances.2021005484⟩
Journal articles hal-03483658v2

Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers

David Wallon , Susana Boluda , Anne Rovelet-Lecrux , Manon Thierry , Julien Lagarde
Acta Neuropathologica, 2021, 142 (2), pp.259-278. ⟨10.1007/s00401-021-02320-4⟩
Journal articles hal-03357184v1
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Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Arienne Mirmiran , Antoine Poli , Cecile Ged , Caroline Schmitt , Thibaud Lefebvre
Haematologica, inPress, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Journal articles inserm-02441267v1
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αII‐spectrin controls calcium‐regulated exocytosis in neuroendocrine chromaffin cells through N-WASP interaction

Sebastien Houy , Gaël Nicolas , Fanny Momboisse , Magali Malacombe , Marie‐france Bader
IUBMB Life, 2020, 72 (4), pp.544-552. ⟨10.1002/iub.2217⟩
Journal articles hal-02922314v1

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

Katell Peoc'H , Gaël Nicolas , Caroline Schmitt , Arienne Mirmiran , Raed Daher
Molecular Genetics and Metabolism, 2019, ⟨10.1016/j.ymgme.2019.01.015⟩
Journal articles inserm-02075450v1

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

Katell Peoc'H , Gaël Nicolas , Caroline Schmitt , Arienne Mirmiran , Raed Daher
Molecular Genetics and Metabolism, 2019, ⟨10.1016/j.ymgme.2019.01.015⟩
Journal articles hal-02351175v1
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Slc20a2 , encoding the phosphate transporter PiT2, is an important genetic determinant of bone quality and strength

Sarah Beck‐cormier , Christopher J. Lelliott , John Logan , David Lafont , Laure Merametdjian
Journal of Bone and Mineral Research, 2019, Epub ahead of print. ⟨10.1002/jbmr.3691⟩
Journal articles inserm-02010963v1
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Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation

Slim Azouzi , Mahmoud Mikdar , Patricia Hermand , Emilie-Fleur Gautier , Virginie Salnot
Blood, 2019, 135 (6), pp.441-448. ⟨10.1182/blood.2019002320⟩
Journal articles hal-02416860v1

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Arienne Mirmiran , Caroline Schmitt , Thibaud Lefebvre , Hana Manceau , Raed Daher
American Journal of Human Genetics, 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩
Journal articles hal-02328937v1
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Iron chelation by curcumin suppresses both curcumin-induced autophagy and cell death together with iron overload neoplastic transformation

Nathan Rainey , Aoula Moustapha , Ana Saric , Gaël Nicolas , Franck Sureau
Cell Death Discovery, 2019, 5, ⟨10.1038/s41420-019-0234-y⟩
Journal articles hal-03031432v1

Morphological features in juvenile Huntington disease associated with cerebellar atrophy -magnetic resonance imaging morphometric analysis

Abderrahmane Hedjoudje , Gaël Nicolas , Alice Goldenberg , Catherine Vanhulle , Clémentine Dumant-Forrest
Pediatric Radiology, 2018, 48 (10), pp.1463 - 1471. ⟨10.1007/s00247-018-4167-z⟩
Journal articles inserm-02457366v1
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

J. C. Bis , X. Jian , B. W. Kunkle , Y. Chen , K. L. Hamilton-Nelson
Molecular Psychiatry, 2018, 25 (8), pp.1859-1875. ⟨10.1038/s41380-018-0112-7⟩
Journal articles hal-03177410v1

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Hugo Lenglet , Caroline Schmitt , Thomas Grange , Hana Manceau , Narjesse Karboul
Human Molecular Genetics, 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩
Journal articles hal-02351445v1
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Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Yvette Yien , Sarah Ducamp , Lisa van Der Vorm , Julia Kardon , Hana Manceau
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (38), pp.E8045-E8052. ⟨10.1073/pnas.1700632114⟩
Journal articles inserm-02075468v1

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Gaël Nicolas , David Wallon , Camille Charbonnier , Olivier Quenez , Stéphane Rousseau
European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩
Journal articles hal-01431285v1

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

François Sellal , David Wallon , Laurent Martinez-Almoyna , Cecilia Marelli , Abhinav Dhar
Journal of Alzheimer's Disease, 2016, ⟨10.3233/JAD-160709⟩
Journal articles hal-01425503v1
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Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Flavia Guillem , Caroline Kannengiesser , Claire Oudin , Anne Lenoir , Pavle Matak
Human Mutation, 2012, 33 (9), pp.1388-96. ⟨10.1002/humu.22116⟩
Journal articles inserm-00748562v1
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Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.

Anne Lenoir , Jean-Christophe Deschemin , Léon Kautz , Andrew J. Ramsay , Marie-Paule Roth
Blood, 2011, 117 (2), pp.647-50. ⟨10.1182/blood-2010-07-295147⟩
Journal articles inserm-00552073v1
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L'hepcidine, le chef d'orchestre de l'homéostasie du fer

Gaël Nicolas
Diabète et Obésité, 2009, 4 (29), pp.94-98
Journal articles inserm-00378204v1
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A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

Fleur Meary , Sylvain Metral , Chrystophe Ferreira , Dominique Eladari , Yves Colin
Journal of Biological Chemistry, 2007, 282 (19), pp.14226-14237
Journal articles inserm-00284621v1
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Tyrosine phosphorylation regulates alpha II spectrin cleavage by calpain.

Gaël Nicolas , Catherine M. Fournier , Colette Galand , Laurence Malbert-Colas , Odile Bournier
Molecular and Cellular Biology, 2002, 22 (10), pp.3527-3536
Journal articles inserm-00284770v1
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Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.

Gaël Nicolas , Myriam Bennoun , Isabelle Devaux , Carole Beaumont , Bernard Grandchamp
Proceedings of the National Academy of Sciences of the United States of America, 2001, 98 (15), pp.8780-5. ⟨10.1073/pnas.151179498⟩
Journal articles inserm-00331349v1
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Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.

Gaël Nicolas , Sophie Pedroni , Catherine M. Fournier , Huguette Gautero , Constantin T. Craescu
Biochemical Journal, 1998, 332 ( Pt 1), pp.81-9
Journal articles inserm-00284779v1
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Étude fonctionnelle et structurale des spectrines -
Découverte de l'hepcidine, une nouvelle hormone de l'homéostasie du fer

Gaël Nicolas
Sciences du Vivant [q-bio]. Université Paris-Diderot - Paris VII, 2008
Habilitation à diriger des recherches tel-00285035v1