Annexins and membrane repair dysfunctions in muscular dystrophies

C Croissant, R Carmeille, C Brévart… - International Journal of …, 2021 - mdpi.com
Muscular dystrophies constitute a group of genetic disorders that cause weakness and
progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 …

Recent advances in the production of genome-edited rats

M Sato, S Nakamura, E Inada… - International Journal of …, 2022 - mdpi.com
The rat is an important animal model for understanding gene function and developing
human disease models. Knocking out a gene function in rats was difficult until recently …

Dominant-negative p53-overexpression in skeletal muscle induces cell death and fiber atrophy in rats

HT Langer, AA Mossakowski, R Sule, A Gomes… - Cell death & …, 2022 - nature.com
The tumor suppressor p53 is thought to play a key role in the maintenance of cell size and
homeostasis, but relatively little is known about its role in skeletal muscle. Based on its …

Nuclear mechanotransduction in skeletal muscle

S Jabre, W Hleihel, C Coirault - Cells, 2021 - mdpi.com
Skeletal muscle is composed of multinucleated, mature muscle cells (myofibers) responsible
for contraction, and a resident pool of mononucleated muscle cell precursors (MCPs), that …

Roles of the cytoskeleton in human diseases

M Li, L Peng, Z Wang, L Liu, M Cao, J Cui, F Wu… - Molecular Biology …, 2023 - Springer
Recently, researches have revealed the key roles of the cytoskeleton in the occurrence and
development of multiple diseases, suggesting that targeting the cytoskeleton is a viable …

Skeletal muscle dysfunction in experimental pulmonary hypertension

K Kosmas, Z Michael, AE Papathanasiou… - International journal of …, 2022 - mdpi.com
Pulmonary arterial hypertension (PAH) is a serious, progressive, and often fatal disease that
is in urgent need of improved therapies that treat it. One of the remaining therapeutic …

A cytoplasmic escapee: Desmin is going nuclear

EK Mangit, N DÜZ, PR DİNÇER - Turkish Journal of Biology, 2021 - journals.tubitak.gov.tr
It has been a long time since researchers have focused on the cytoskeletal proteins'
unconventional functions in the nucleus. Subcellular localization of a protein not only affects …

[HTML][HTML] A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats

HT Langer, AA Mossakowski, AM Avey… - The FASEB …, 2021 - ncbi.nlm.nih.gov
Desminopathy is the most common intermediate filament disease in humans. The most
frequent mutation causing desminopathy in patients is a R350P DES missense mutation. We …

[HTML][HTML] Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

JG Hauserman, CG Laverty, S Donkervoort… - Human Genetics and …, 2024 - cell.com
Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle
weakness, cardiomyopathy with associated severe arrhythmias, and respiratory …

[HTML][HTML] CRISPR-activation screen identified potassium channels for protection against mycotoxins through cell cycle progression and mitochondrial function

Y Tang, S Liao, Z Nie, G Kuang, C Ji, D Wan, L He… - Cell Stress, 2023 - ncbi.nlm.nih.gov
Zearalenone (ZEA) exposure has carcinogenic effects on human and animal health by
exhibiting intestinal, hepatic, and renal toxicity. At present, the underlying mechanisms on …