Concept

Atrophie

Publications associées (14)

Cyclo His-Pro Attenuates Muscle Degeneration in Murine Myopathy Models

Johan Auwerx, Xiaoxu Li, Tanes Imamura de Lima, Keno Strotjohann, Alessia De Masi

Among the inherited myopathies, a group of muscular disorders characterized by structural and metabolic impairments in skeletal muscle, Duchenne muscular dystrophy (DMD) stands out for its devastating progression. DMD pathogenesis is driven by the progress ...

Wiley2024

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice

Bernard Schneider

Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse model. ...

OXFORD UNIV PRESS2023

Sphingolipids accumulate in aged muscle, and their reduction counteracts sarcopenia

Johan Auwerx, Davide D'Amico, Qi Wang, Sébastien Robert Victor Herzig, Maroun Bou Sleiman, Martin Rainer Wohlwend, Peiling Luan, Pirkka-Pekka Untamo Laurila, Barbara Moreira Crisol

Age-related muscle dysfunction and sarcopenia are major causes of physical incapacitation in older adults and currently lack viable treatment strategies. Here we find that sphingolipids accumulate in mouse skeletal muscle upon aging and that both genetic a ...

SPRINGERNATURE2022

Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients

SMA is a genetically determined motor system disorder that results in muscle weakness, selective motor neuron death, muscle atrophy, and impaired functional mobility. In SMA model systems, long-term treatment with 4-aminopyridine (4-AP) has been shown to i ...

PERGAMON-ELSEVIER SCIENCE LTD2020

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

Mitochondrial oxidative capacity and NAD(+) biosynthesis are reduced in human sarcopenia across ethnicities

Patrick Descombes, Sylviane Métairon, Sonia Karaz, Sofia Moco, Tanja Sonntag, Lei Feng

The causes of impaired skeletal muscle mass and strength during aging are well-studied in healthy populations. Less is known on pathological age-related muscle wasting and weakness termed sarcopenia, which directly impacts physical autonomy and survival. H ...

Springer2019

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Bernard Schneider

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the surv ...

ELSEVIER SCIENCE BV2018

Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis

Didier Trono, Priscilla Turelli, Evaristo Jose Planet Letschert

BackgroundAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease involving loss of motor neurons and having no known cure and uncertain etiology. Several studies have drawn connections between altered retrotransposon expression and ALS. C ...

2018

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models

Brian Donal McCabe

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the re ...

Academic Press Inc Elsevier Science2017

Toward Reliable MR-Based Brain Structure Morphometry

Bénédicte Marie Maréchal

Dementing neurodegenerative disorders have more and more prominent public health implications with the most frequent cause being the currently non reversible Alzheimer's Disease (AD). However, over the past 15 years, an abundant literature has demonstrated ...

EPFL2011

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