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.
Papers
More filters
Journal ArticleDOI
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types
Gaël Yvert,Katrin S. Lindenberg,Didier Devys,Dominique Helmlinger,G. Bernhard Landwehrmeyer,Jean-Louis Mandel +5 more
TL;DR: In vivo evidence is provided that the polyglutamine expansion mutation can stabilize its target protein, as well as a striking discrepancy between mRNA and ataxin-7 levels in transgenic mice expressing the wild-type protein but not in those expressing the mutant one, indicates a selective stabilization.
Journal ArticleDOI
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
Martial Mallaret,Matthis Synofzik,Jaeho Lee,Cari A. Sagum,Muhammad Mahajnah,Rajech Sharkia,Nathalie Drouot,Mathilde Renaud,Fabrice A.C. Klein,Mathieu Anheim,Christine Tranchant,Cyril Mignot,Jean-Louis Mandel,Mark T. Bedford,Peter Bauer,Mustafa A. Salih,Rebecca Schüle,Rebecca Schüle,Ludger Schöls,C. Marcelo Aldaz,Michel Koenig,Michel Koenig +21 more
TL;DR: It is demonstrated that proline 47 is a key amino acid essential for maintaining the WWOX protein fully functional, with its mutation into a threonine resulting in a loss of peptide interaction for the first WW domain.
Journal ArticleDOI
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage
Isidre Ferrer,Josef P. Kapfhammer,Colette Hindelang,Stephan Kemp,Nathalie Troffer-Charlier,Vania Broccoli,Noëlle Callyzot,Petra A. W. Mooyer,Jacqueline J.M Selhorst,Peter Vreken,Ronald J.A. Wanders,Jean-Louis Mandel,Aurora Pujol +12 more
TL;DR: Pujol et al. as mentioned in this paper characterized a mouse deficient for abcd2, the closest paralog to abcd1, showing that Abcd2-/- mice exhibited a late-onset cerebellar and sensory ataxia, with loss of cerebella Purkinje cells and dorsal root ganglia cell degeneration.
Journal ArticleDOI
Mutational analysis of patients with X‐linked adrenoleukodystrophy
Fernando Kok,Sylvia Neumann,Claude Olivier Sarde,Siqun Zheng,Kuei Hua Wu,He-Ming Wei,James S. Bergin,Paul A. Watkins,Stephen Jay Gould,George H. Sack,Hugo W. Moser,Jean-Louis Mandel,Kirby D. Smith +12 more
TL;DR: Analysis of genomic DNA from ALD probands for mutations supports the supposition that mutations in the putative ALD gene result in ALD.
Journal ArticleDOI
Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness
Belinda S. Cowling,Anne Toussaint,Leonela Amoasii,Pascale Koebel,Arnaud Ferry,Laurianne Davignon,Ichizo Nishino,Jean-Louis Mandel,Jocelyn Laporte +8 more
TL;DR: It is shown the RW-DNM2 mutation acts in a dominant manner to cause ADCNM in adult muscle, and the disease arises from a primary defect in skeletal muscle rather than secondary to peripheral nerve involvement.