Results 51 to 60 of about 2,671 (159)

Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches

Pathophysiology, 2021
Limb girdle muscular dystrophy type R1 disease is a progressive disease that is caused by mutations in the CAPN3 gene and involves the extremity muscles of the hip and shoulder girdle. The CAPN3 protein has proteolytic and non-proteolytic properties. The
İzem Olcay Şahin, Yusuf Özkul, Munis Dündar   +2 more
doaj   +1 more source

Capn3 depletion causes Chk1 and Wee1 accumulation and disrupts synchronization of cell cycle reentry during liver regeneration after partial hepatectomy

Cell Regeneration, 2020
Recovery of liver mass to a healthy liver donor by compensatory regeneration after partial hepatectomy (PH) is a prerequisite for liver transplantation. Synchronized cell cycle reentry of the existing hepatocytes after PH is seemingly a hallmark of liver
Feng Chen, Delai Huang, Hui Shi, Ce Gao, Yingchun Wang, Jinrong Peng   +5 more
doaj   +1 more source

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy [PDF]

Human Molecular Genetics, 2015
Mutations in the extreme C-terminus of titin (TTN), situated in the sarcomeric M-band, cause tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy 2J (LGMD2J). The mutations ultimately cause a loss of C-terminal titin, including a binding site for the protease calpain 3 (CAPN3), and lead to a secondary CAPN3 deficiency in LGMD2J muscle ...
Charton, Karine, Sarparanta, Jaakko, Vihola, Anna, Milic, Astrid, Jonson, Per Harald, Suel, Laurence, Luque, Helena, Boumela, Imène, Richard, Isabelle, Udd, Bjarne   +9 more
openaire   +3 more sources

Research progress on calpain 3-mediated intranuclear proteolytic pathways(钙蛋白酶3介导的核内蛋白水解途径研究进展)

浙江大学学报. 农业与生命科学版
Calpain 3 (CAPN3) is the sole member of the calpain family that possesses a nuclear localization signal. Although it was initially identified in skeletal muscle and was long regarded as tissue specific, recent studies have demonstrated that CAPN3 is ...
Zeng Ni(曾妮), Shi Hui(施回)
doaj   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

Annals of Clinical and Translational Neurology, 2019
CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 ...
Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano   +8 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Ageing alters cysteine oxidation‐regulated redox signalling in skeletal muscle: Integrative omics and AI‐based structural predictions

Experimental Physiology, EarlyView.
Abstract Ageing is associated with loss of skeletal muscle mass and strength (sarcopenia) and disrupted redox homeostasis. Redox signalling is essential for muscle adaptation, yet the mechanisms by which ageing disrupts cysteine‐based regulation are poorly defined. The drivers of site‐specific reactivity and signalling specificity in aged muscle remain
Ufuk Ersoy, Malcolm J. Jackson
wiley   +1 more source

A Computational Strategy for Identifying Self‐Assembling Food‐Derived Molecules for Antiparasitic Nanotherapy

Advanced Science, Volume 13, Issue 39, 13 July 2026.
An integrated computational screening strategy identified ursolic acid (UA) and 18β‐glycyrrhetinic acid (18βGA) as a self‐assembling food‐derived molecular pair. The resulting carrier‐free nanoparticles (UA‐18βGA) showed synergistic antiparasitic activity, reduced combined toxicity, and host‐protective anti‐inflammatory effects in zebrafish and murine ...
Shenye Qu, Ting Wang, Jietao Liu, Jiacheng Qin, Bin Yang, Yihang Liu, Pengfei Li, Gaoxue Wang, Fei Ling   +8 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source