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NAD(+) repletion improves muscle function in muscular dystrophy and counters global PARylation

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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

Balancing NAD(+) deficits with nicotinamide riboside: therapeutic possibilities and limitations

Carlos Canto Alvarez

Alterations in cellular nicotinamide adenine dinucleotide (NAD(+)) levels have been observed in multiple lifestyle and age-related medical conditions. This has led to the hypothesis that dietary supplementation with NAD(+) precursors, or vitamin B3s, could ...

SPRINGER BASEL AG2022

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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

Differential role of nicotinamide adenine dinucleotide deficiency in acute and chronic kidney disease

Johan Auwerx, Elena Katsyuba, Adrienne Joëlle Laurence Mottis, Joseph Rutkowski, Renuga Devi Rajaram

Background. Nicotinamide adenine dinucleotide (NAD(+)) is a ubiquitous coenzyme involved in electron transport and a cosubstrate for sirtuin function. NAD(+) deficiency has been demonstrated in the context of acute kidney injury (AKI). Methods. We studied ...

2021

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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

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

MicroRNA-204-5p modulates mitochondrial biogenesis in C2C12 myotubes and associates with oxidative capacity in humans

Xu Wang

Using an unbiased high-throughput microRNA (miRNA)-silencing screen combined with functional readouts for mitochondrial oxidative capacity in C2C12 myocytes, we previously identified 19 miRNAs as putative regulators of skeletal muscle mitochondrial metabol ...

2020

Mitochondria require nicotinamide adenine dinucleotide (NAD(+)) to carry out the fundamental processes that fuel respiration and mediate cellular energy transduction. Mitochondrial NAD(+) transporters have been identified in yeast and plants(1,2), but thei ...

NATURE RESEARCH2020

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

The progressive decline of muscle mass and function called sarcopenia is a multi-factorial process associated to frailty, disability, and low quality of life in the elderly. The co-factor nicotinamide adenine dinucleotide (NAD+) becomes a limiting factor i ...

EPFL2019