Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations [PDF]
Frontiers in Cell and Developmental Biology, 2022 LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function.
Pablo Marco-Moreno +2 more
exaly +7 more sources
A muscle-specific calpain, CAPN3, forms a homotrimer
Biochimica Et Biophysica Acta - Proteins and Proteomics, 2020 Calpain-3 (CAPN3), a 94-kDa member of the calpain protease family, is abundant in skeletal muscle. Mutations in the CAPN3 gene cause limb girdle muscular dystrophy type 2A, indicating that CAPN3 plays important roles in muscle physiology. CAPN3 has several unique features. A crystallographic study revealed that its C-terminal penta-EF-hand domains form
Shoji Hata +2 more
exaly +3 more sources
Protease-mediated PRC1 dissociation promotes H2AK119ub remodeling during stress responses [PDF]
The EMBO JournalChromatin must remain competent for responding rapidly to stress signals. Polycomb repressive complex 1 (PRC1) contributes to chromatin compaction through mono-ubiquitylation of histone H2A at Lys119 (H2AK119ub), yet how PRC1 complexes are dissociated ...
Wei Cui +15 more
doaj +2 more sources
Transcriptional and translational effects of intronic CAPN3 gene mutations [PDF]
Human Mutation, 2010 Variants of unknown significance in the CAPN3 gene constitute a significant challenge for genetic counselling. Despite the frequency of intronic nucleotide changes in this gene (15-25% of all mutations), so far their pathogenicity has only been inferred by in-silico analysis, and occasionally, proven by RNA analysis. In this study, 5 different intronic
Marina Fanin, Corrado Angelini
exaly +4 more sources
Journal of Genetic Engineering and Biotechnology, 2023 Background Sheep is one of the commodities of livestock which has been known widely in Indonesia for supporting the national food security. Improvement in genetic quality by selection based on genetic markers for growth is necessary to increase meat ...
R R Noor +2 more
exaly +2 more sources
Amino acid sequence alignment of vertebrate CAPN3/calpain-3/p94
Data in Brief, 2015 CAPN3 is a calpain superfamily member that is predominantly expressed in skeletal muscle. So far, clear CAPN3 orthologs were found only in vertebrates.
Yasuko Ono, Hiroyuki Sorimachi
doaj +3 more sources
Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report [PDF]
Case Reports in Neurological MedicineMuscle stiffness or rigidity is a common problem yet is addressed in few studies. Patients with muscle rigidity/spasticity due to injury of upper motor neurons or genetic muscle diseases are sometimes treated with dantrolene.
Adam S. Deardorff +2 more
doaj +2 more sources
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD) [PDF]
CellsObjective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Sara Aguti +9 more
doaj +2 more sources
French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice [PDF]
Orphanet Journal of Rare DiseasesBackground Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-
Gianmarco Severa +16 more
doaj +2 more sources
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1 [PDF]
Orphanet Journal of Rare DiseasesBackground Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene.
Sukanya Banerjee +3 more
doaj +2 more sources