J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal ArticleDOI
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,Christine Kretz,Despina Sanoudou,Despina Sanoudou,Despina Sanoudou,Alan H. Beggs,Bruno Allard,Jean-Louis Mandel,Jocelyn Laporte,Vincent Jacquemond,Anna Buj-Bello +14 more
TL;DR: A critical role of myotubularin is revealed in the proper organization and function of the E-C coupling machinery and it is strongly suggested that defective RyR1-mediated SR Ca2+ release is responsible for the failure of muscle function in myOTubular myopathy.
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Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice
Gaël Yvert,Katrin S. Lindenberg,Serge Picaud,G. Bernhard Landwehrmeyer,José-Alain Sahel,Jean-Louis Mandel +5 more
TL;DR: It is shown that mice overexpressing full-length mutant ataxin-7 either in Purkinje cells or in rod photoreceptors have deficiencies in motor coordination and vision, respectively, suggesting that proteolytic cleavage of mutants and trans-neuronal responses are implicated in the pathogenesis of SCA7.
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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation
Vincent Marion,Corinne Stoetzel,Dominique Schlicht,Nadia Messaddeq,Michael Koch,Elisabeth Flori,Jean Marc Danse,Jean-Louis Mandel,Jean-Louis Mandel,Hélène Dollfus +9 more
TL;DR: It is shown that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS, and adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls.
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Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
TL;DR: The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat and direct detection of the mutations is used to characterise large families who illustrate the wide variation in penetrance which has been observed in different sibships (a feature often called the Sherman paradox).
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FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts
Marie Castets,Céline Schaeffer,Elias Bechara,Annette Schenck,Edward W. Khandjian,Sylvie Luche,Hervé Moine,Thierry Rabilloud,Jean-Louis Mandel,Barbara Bardoni +9 more
TL;DR: The molecular mechanism unraveled here points to a role for FMRP in modulation of actin dynamics, which is a key process in morphogenesis of dendritic spines, synaptic structures abnormally developed in Fragile X syndrome patient's brain.