Concept
Muscular dystrophy
Related publications (67)
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 ...
Wiley2024Characterization of Cyclo His-Pro for the prevention and treatment of liver disease and muscular dystrophy
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 ...
EPFL2023Assessment of idiopathic inflammatory myopathy using a deep learning method for muscle T2 mapping segmentation
Qian Wang, Tobias Kober, Tom Hilbert, Yao Zhang, Yubo Zhao
Objective To investigate the utility of an automatic deep learning (DL) method for segmentation of T2 maps in patients with idiopathic inflammatory myopathy (IIM) against healthy controls, and also the association of quantitative T2 values in patients with ...
SPRINGER2022Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy
Johan Auwerx, Pénélope Andreux, Davide D'Amico, Hao Li, 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 SCIENCE2021BET1 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 ...
WILEY2021Metabolic rescue of muscle and muscle stem cells in muscle disease
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 ...
EPFL2020Hybrid Human-Machine Interface for Gait Decoding Through Bayesian Fusion of EEG and EMG Classifiers
Silvestro Micera, Fiorenzo Artoni, Luca Tonin, Stefano Tortora
Despite the advances in the field of brain computer interfaces (BCI), the use of the sole electroencephalography (EEG) signal to control walking rehabilitation devices is currently not viable in clinical settings, due to its unreliability. Hybrid interface ...
2020Three-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 ...
2020The Transcription Factor Nfix Requires RhoA-ROCK1 Dependent Phagocytosis to Mediate Macrophage Skewing during Skeletal Muscle Regeneration
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 ...
2020SMCHD1 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