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The microbiota and the host organism switch between cooperation and competition based on dietary iron levels
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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
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Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies
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ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria
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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders
Romain Duval
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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
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Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria
Arienne Mirmiran
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αII‐spectrin controls calcium‐regulated exocytosis in neuroendocrine chromaffin cells through N-WASP interaction
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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
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Iron chelation by curcumin suppresses both curcumin-induced autophagy and cell death together with iron overload neoplastic transformation
Nathan Rainey
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Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias
Katell Peoc'H
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Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias
Katell Peoc'H
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Caroline Schmitt
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Arienne Mirmiran
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Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation
Slim Azouzi
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Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria
Arienne Mirmiran
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Morphological features in juvenile Huntington disease associated with cerebellar atrophy -magnetic resonance imaging morphometric analysis
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inserm-02457366
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From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria
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hal-02351445
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Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria
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Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (38), pp.E8045-E8052. ⟨10.1073/pnas.1700632114⟩
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inserm-02075468
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APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review
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hal-01425503
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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
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hal-01431285
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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.
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inserm-00748562
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Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.
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inserm-00552073
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L'hepcidine, le chef d'orchestre de l'homéostasie du fer
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Diabète et Obésité, 2009, 4 (29), pp.94-98
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inserm-00378204
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A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.
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Journal of Biological Chemistry, 2007, 282 (19), pp.14226-14237
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inserm-00284621
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Tyrosine phosphorylation regulates alpha II spectrin cleavage by calpain.
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Molecular and Cellular Biology, 2002, 22 (10), pp.3527-3536
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inserm-00284770
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Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.
Gaël Nicolas
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Proceedings of the National Academy of Sciences of the United States of America, 2001, 98 (15), pp.8780-5. ⟨10.1073/pnas.151179498⟩
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inserm-00331349
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Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.
Gaël Nicolas
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Biochemical Journal, 1998, 332 ( Pt 1), pp.81-9
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