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Danielle Chateau
Researcher at French Institute of Health and Medical Research
Publications - 31
Citations - 2871
Danielle Chateau is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Myopathy & Lipid droplet. The author has an hindex of 21, co-authored 31 publications receiving 2713 citations. Previous affiliations of Danielle Chateau include Pierre-and-Marie-Curie University & École Normale Supérieure.
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Journal ArticleDOI
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Patrick Vicart,Patrick Vicart,Anne Caron,Pascale Guicheney,Zhenlin Li,Zhenlin Li,Marie-Christine Prévost,Armelle Faure,Danielle Chateau,Françoise Chapon,Fernando M.S. Tomé,Jean-Marie Dupret,Denise Paulin,Denise Paulin,Michel Fardeau +14 more
TL;DR: These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder, and an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family.
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Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
TL;DR: Mfn2 can cluster active mitochondria in the perinuclear region independently of the cytoskeleton, bring mitochondrial membranes into close contact and modify mitochondrial structure, without disturbing the integrity of the inner and outer membrane.
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Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)
Claire Donger,Eric Krejci,Adolf Pou Serradell,Bruno Eymard,Suzanne Bon,Sophie Nicole,Danielle Chateau,Françoise Gary,Michel Fardeau,Jean Massoulié,Pascale Guicheney +10 more
TL;DR: A large family comprising 11 siblings, 6 of whom are affected by a mild form of CMS-Ic, is studied, finding that the patients present a homozygous missense mutation, Y431S, in the conserved C-terminal domain of COLQ, thought to disturb the attachment of collagen-tailed AChE to the NMJ, thus constituting the first genetic defect causing CMS- Ic.
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The proteome of cytosolic lipid droplets isolated from differentiated Caco-2/TC7 enterocytes reveals cell-specific characteristics
Julien Bouchoux,Frauke Beilstein,Frauke Beilstein,Frauke Beilstein,Thomas Pauquai,Thomas Pauquai,Thomas Pauquai,I. Chiara Guerrera,Danielle Chateau,Danielle Chateau,Danielle Chateau,Nathalie Ly,Nathalie Ly,Nathalie Ly,Malik Alqub,Malik Alqub,Malik Alqub,Christophe Klein,Christophe Klein,Christophe Klein,Jean Chambaz,Monique Rousset,Monique Rousset,Monique Rousset,Jean-Marc Lacorte,Jean-Marc Lacorte,Jean-Marc Lacorte,Etienne Morel,Etienne Morel,Etienne Morel,Sylvie Demignot +30 more
TL;DR: The protein endowment of CLDs isolated by sucrose‐gradient centrifugation from differentiated Caco‐2/TC7 enterocytes, the only human model able to secrete TRL in culture and to store transiently TAGs as CLDs when supplied with lipids, was analysed.
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Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy
TL;DR: The study of muscle biopsies of 29 cases of oculopharyngeal muscular dystrophy showed the two main morphological features of this disease: rimmed vacuoles and intranuclear inclusions, which are the morphological marker of OPMD and their finding in a muscle biopsy allows the exact diagnosis of this Disease.