Publications associées à Dystrophie myotonique de Steinert

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Matteo Dal Peraro, Mykola Dergai, Ying Hu

BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin-5 for fusion of endoplasmic reticulum-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and the cis-Golgi. Here, we report three individuals, from two ...

WILEY2021

Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy

Johan Auwerx, Pénélope Andreux, Davide D'Amico, Hao Li, Tanes Imamura de Lima, Martin Rainer Wohlwend, Peiling Luan, Pirkka-Pekka Untamo Laurila

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, and despite advances in genetic and pharmacological disease-modifying treatments, its management remains a major challenge. Mitochondrial dysfunction contributes to DMD, yet the mecha ...

AMER ASSOC ADVANCEMENT SCIENCE2021

Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion

Marion Leleu, Ludovica Vanzan, Flavia Marzetta, Ioannis Xenarios

Expanded CAG/CTG repeats underlie 13 neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington's disease (HD). Upon expansion, disease loci acquire heterochromatic characteristics, which may provoke changes to chromatin conformation ...

2020

Metabolic rescue of muscle and muscle stem cells in muscle disease

Peiling Luan

Duchenne muscular dystrophy (DMD), caused by the mutation of dystrophin gene, is an X-linked disorder that affects 1 in 3500 males, leading to progressive muscle degeneration and eventually resulting in premature death. Increasing evidence indicates that D ...

EPFL2020

Wearable exoskeletons to support ambulation in people with neuromuscular diseases, design rules and control

Amalric Louis Ortlieb

Neuromuscular diseases are degenerative and, thus far, incurable disorders that lead to large muscle wasting. They result in constant deterioration of activities of daily living and in particular of ambulation. Some common types include Duchenne muscular d ...

EPFL2019

Muscle synergies and spinal maps are sensitive to the asymmetry induced by a unilateral stroke

Silvestro Micera, Martina Coscia

Background: Previous studies have shown that a cerebrovascular accident disrupts the coordinated control of leg muscles during locomotion inducing asymmetric gait patterns. However, the ability of muscle synergies and spinal maps to reflect the redistribut ...

BioMed Central2015

Assessing dystrophies and other muscle diseases at the nanometer scale by atomic force microscopy

Giovanni Dietler, Harald Brune, Andrzej Kulik, Nicolas Mermod, Guillaume Witz, Stefania Puttini

Aim: Atomic force microscopy nanoindentation of myofibers was used to assess and quantitatively diagnose muscular dystrophies from human patients. Materials & methods: Myofibers were probed from fresh or frozen muscle biopsies from human dystrophic patient ...

Future Medicine2014

Ncor1 is a physiological modulator of muscle mass and oxidative function

Johan Auwerx, Laurent Mouchiroud, Hiroyasu Yamamoto

The present invention provides methods of increasing muscle mass and muscle miochodrial oxidative metabolism. Additionally, the invention provides treating various disorders associated with mitochondrial dysfunction, including but not limited to metabolic ...

2012

Pattern Dystrophy With High Intrafamilial Variability Associated With Y141C Mutation In The Peripherin/Rds Gene And Successful Treatment Of Subfoveal Cnv Related To Multifocal Pattern Type With Anti-Vegf (Ranibizumab) Intravitreal Injections

Objective: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroid ...

Lippincott Williams & Wilkins2012

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic con ...

2009

Subretinal electrode implantation in the P23H rat for chronic stimulations

Philippe Renaud, Olof Pontus Linderholm

Background: In age related macular degeneration and inherited dystrophies, preservation of retinal ganglion cells has been demonstrated. This finding has led to the development of various models of subretinal or epiretinal implant in order to restore visio ...

2006