Publications related to Limb–girdle muscular dystrophy

Cyclo His-Pro Attenuates Muscle Degeneration in Murine Myopathy Models

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

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

Characterization of Cyclo His-Pro for the prevention and treatment of liver disease and muscular dystrophy

Alessia De Masi

The natural compound Cyclo Histidine-Proline (CHP) was initially discovered in the brain, but thereafter evaluated in the context of diabetes because of its hypoglycemic action. The pharmacokinetics and the toxicological profile of CHP showed it can be dos ...

EPFL2023

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

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

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

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

SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres

Joachim Lingner, Wareed Ahmed, Verena Pfeiffer, Marianna Feretzaki, Aleksandra Vancevska

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) has been implicated in X-chromosome inactivation, imprinting, and DNA damage repair, and mutations in SMCHD1 can cause facioscapulohumeral muscular dystrophy. More re ...

WILEY2020

The Transcription Factor Nfix Requires RhoA-ROCK1 Dependent Phagocytosis to Mediate Macrophage Skewing during Skeletal Muscle Regeneration

Giuliana Rossi

Macrophages (MPs) are immune cells which are crucial for tissue repair. In skeletal muscle regeneration, pro-inflammatory cells first infiltrate to promote myogenic cell proliferation, then they switch into an anti-inflammatory phenotype to sustain myogeni ...

2020

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

Exoskeletons as Mechatronic Design Example

Hannes Bleuler, Mohamed Bouri, Solaiman Shokur, Jeremy Olivier, Amalric Louis Ortlieb, Jemina Fasola, Tristan Hubert Vouga, Romain Pierre François Baud

Exoskeletons are a perfect example of a mechatronics product. They illustrate the close integration and interdependence of mechanical design, drive train, sensors, control strategy and user interface. Recent developments of our lab will be discussed in det ...

SPRINGER INTERNATIONAL PUBLISHING AG2019

Autologous Cell Therapy Approach for Duchenne Muscular Dystrophy using PiggyBac Transposons and Mesoangioblasts

Nicolas Mermod

Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease currently without cure. We investigated the use of the PiggyBac transposon for full-length dystrophin expression in murine mesoangioblast (MABs) progenitor cells. DMD murine MABs were tra ...

CELL PRESS2018

Restoring Motor Functions After Stroke: Multiple Approaches and Opportunities

Friedhelm Christoph Hummel, Estelle Emeline Raffin

More than 1.5 million people suffer a stroke in Europe per year and more than 70% of stroke survivors experience limited functional recovery of their upper limb, resulting in diminished quality of life. Therefore, interventions to address upper-limb impair ...

2018

Sensory threshold neuromuscular electrical stimulation fosters motor imagery performance

José del Rocio Millán Ruiz, Inaki Asier Iturrate Gil, Serafeim Perdikis, Michael Eric Anthony Pereira, Tiffany Corbet

Motor imagery (MI) has been largely studied as a way to enhance motor learning and to restore motor functions. Although it is agreed that users should emphasize kinesthetic imagery during MI, recordings of MI brain patterns are not sufficiently reliable fo ...

2018

AUTONOMYO: Design Challenges of Lower Limb Assistive Device for Elderly People, Multiple Sclerosis and Neuromuscular Diseases

Hannes Bleuler, Mohamed Bouri, Amalric Louis Ortlieb

Lower limb wearable robotics also known as exoskeleton or power suit is a booming field of research. Potential medical applications cover a large range of gait disorders from rehabilitation to assistance in daily mobility. Surprisingly, or not, paraplegia ...

Springer Int Publishing Ag2017

Enhancers of notch signaling and their use in the treatment of cancers and malignancies medicable by upregulation of notch

Jieping Zhu, Viktoria Reinmüller

The present invention relates to the use for enhancing Notch signaling in an individual, of a compound showing the general formula (I) and/or a pharmaceutically acceptable salt or ester thereof, for the treatment of a disease selected from the group of der ...

2017

Multi-harmonic imaging in the second near-infrared window of nanoparticle-labeled stem cells as effective monitoring tool in tissue depth

Sandrine Gerber, Solène Marcelle Françoise Marie Passemard, Luigi Bonacina

In order to assess the therapeutic potential of cell-based strategies, it is of paramount importance to elaborate and validate new tools for monitoring the behavior of injected cells in terms of tissue dissemination and engraftment properties. Here, we app ...

American Chemical Society2017

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

Johan Auwerx, Carlos Canto Alvarez, Laurent Mouchiroud, Dongryeol Ryu, Xu Wang, Vincenzo Sorrentino, Hongbo Zhang, Keir Joe Menzies, Karim Laurent Gariani

Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of normal healthy mice, we observed correlations between the abundance of mRNA transcripts related to ...

Amer Assoc Advancement Science2016

Evaluation of the effects of the Arm Light Exoskeleton on movement execution and muscle activities: a pilot study on healthy subjects

Silvestro Micera, Elvira Pirondini, Martina Coscia, Massimo Bergamasco

Background: Exoskeletons for lower and upper extremities have been introduced in neurorehabilitation because they can guide the patient's limb following its anatomy, covering many degrees of freedom and most of its natural workspace, and allowing the contr ...

BioMed Central2016

NAD+ repletion improves mitochondrial and stem cell function and enhances life span in mice

Johan Auwerx, Kristina Schoonjans, Matthias Lütolf, Davide D'Amico, Dongryeol Ryu, Xu Wang, Hongbo Zhang, Peiling Luan, Keir Joe Menzies, Karim Laurent Gariani, Ruedi Aebersold

Adult stem cells (SCs) are essential for tissue maintenance and regeneration yet are susceptible to senescence during aging. We demonstrate the importance of the amount of the oxidized form of cellular nicotinamide adenine dinucleotide (NAD(+)) and its imp ...

American Association for the Advancement of Science2016

Peroxiredoxin 1 Protects Telomeres from Oxidative Damage and Preserves Telomeric DNA for Extension by Telomerase

Joachim Lingner, Viesturs Simanis, Sophie Redon, Wareed Ahmed, Eric Aeby

Oxidative damage of telomeres can promote cancer, cardiac failure, and muscular dystrophy. Specific mechanisms protecting telomeres from oxidative damage have not been described. We analyzed telomeric chromatin composition during the cell cycle and show th ...

Elsevier2016