Arnaud Jacquier
Aix-Marseille University
18 Papers
2 Citations
Arnaud Jacquier is an academic researcher from Aix-Marseille University. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 7, co-authored 8 publications. Previous affiliations of Arnaud Jacquier include French Institute of Health and Medical Research & Columbia University Medical Center.
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Papers
Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
Valérie Delague,Arnaud Jacquier,Tarik Hamadouche,Tarik Hamadouche,Yannick Poitelon,Cécile Baudot,Irène Boccaccio,Eliane Chouery,Malika Chaouch,Nora Kassouri,Rosette Jabbour,D. Grid,André Mégarbané,Georg Haase,Nicolas Lévy +14 more
TL;DR: To the authors' knowledge, this is the first report of mutations in a Rho GEF protein being involved in CMT, and expression of truncated FRABIN mutants in rat primary motoneurons and rat Schwann cells induced significantly fewer microspikes than expression of wild-type F RABIN.
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Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies
TL;DR: It is shown that mutant superoxide dismutase-1 (SOD1), a cause of familial ALS, profoundly alters the sub-cellular localization of the SMN protein, preventing the formation of nuclear 'gems' by disrupting the recruitment of the protein to Cajal bodies.
Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function
TL;DR: It is demonstrated that alsin-depleted spinal motor neurons can be rescued from defective survival and axon growth by co-cultured astrocytes, the first example of non-cell-autonomous glial effects in a recessive form of motor neuron disease.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Arnaud Jacquier,J. Theuriet,Fanny Fontaine,Valentine Mosbach,Nicolas Lacoste,Shams Ribault,Valérie Risson,Julien Carras,Laurent Coudert,Thomas Simonet,Philippe Latour,Tanya Stojkovic,Juliette Piard,Anne Cosson,Gaetan Lesca,Françoise Bouhour,Stéphane Allouche,Hélène Puccio,A. Pegat,Laurent Schaeffer +19 more
TL;DR: In this article , the authors reported a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.1Met? ) was identified in the COQ7 gene and the effect of Coenzyme Q10 supplementation in vitro.
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy
Arnaud Jacquier,Shams Ribault,Michel Mendes,Nicolas Lacoste,Valérie Risson,Julien Carras,Philippe Latour,Aleksandra Nadaj-Pakleza,Tanya Stojkovic,Laurent Schaeffer +9 more
TL;DR: In vitro approaches establish the pathogenicity of two new variants p.Gly444Arg and p.His446Gln in three patients from two families associated with autosomal dominant CMT and with adult late onset proximal motor neuropathy, further increasing the spectrum of clinical manifestations associated with MORC2 mutations.
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