Associated Papers
Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.
Hisatsune C et al.
The Journal of Biological Chemistry, 2026
Distinct systemic metabolic features in limb-girdle muscular dystrophy type R1 mouse models as a potential early pathogenic signature.
Shinkai-Ouchi F et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.
Bardakov SN et al.
Journal of Neuromuscular Diseases, 2025
In situ detection of activation of CAPN3, a responsible gene product for LGMDR1, in mouse skeletal myotubes.
Hisatsune C et al.
The Journal of Biological Chemistry, 2025
Human calpain-3 and its structural plasticity: Dissociation of a homohexamer into dimers on binding titin.
Ye Q et al.
The Journal of Biological Chemistry, 2025
Capn3b-deficient zebrafish model reveals a key role of autoimmune response in LGMDR1.
Chen Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
Human calpain-3 and its structural plasticity: dissociation of a homohexamer into dimers on binding titin.
Ye Q et al.
Biorxiv : the Preprint Server for Biology, 2024
Engineered mischarged transfer RNAs for correcting pathogenic missense mutations.
Hou Y et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Hepatic depletion of nucleolar protein mDEF causes excessive mitochondrial copper accumulation associated with p53 and NRF1 activation.
Wei J et al.
Iscience, 2023
Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
Ma HS et al.
Clinical Genetics, 2023
Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation.
Müthel S et al.
Molecular Therapy. Nucleic Acids, 2023
An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex.
Ding F et al.
Biochemical and Biophysical Research Communications, 2022
Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
Ozyilmaz B et al.
Neurogenetics, 2022
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Zhong H et al.
Journal of Medical Genetics, 2021
Titin N2A Domain and Its Interactions at the Sarcomere.
Adewale AO et al.
International Journal of Molecular Sciences, 2021
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
Sas10 controls ribosome biogenesis by stabilizing Mpp10 and delivering the Mpp10-Imp3-Imp4 complex to nucleolus.
Zhao S et al.
Nucleic Acids Research, 2019
Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide.
McCartney CE et al.
The Journal of Biological Chemistry, 2018
Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Kramerova I et al.
Human Molecular Genetics, 2018
Structures of human calpain-3 protease core with and without bound inhibitor reveal mechanisms of calpain activation.
Ye Q et al.
The Journal of Biological Chemistry, 2018
Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3.
Guan Y et al.
Plos Biology, 2016
Calpain-3-mediated regulation of the Na⁺-Ca²⁺ exchanger isoform 3.
Michel LY et al.
Pflugers Archiv : European Journal of Physiology, 2016
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Charton K et al.
Human Molecular Genetics, 2015
Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein.
Ermolova N et al.
The Journal of Biological Chemistry, 2015
Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells.
Moretti D et al.
Plos One, 2015
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
Ojima K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2014
Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand.
Partha SK et al.
The Febs Journal, 2014
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).
Mahmood OA et al.
Molecular Medicine Reports, 2014
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.
Roudaut C et al.
Circulation, 2013
PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.
Ono Y et al.
Journal of Molecular Biology, 2013
Def defines a conserved nucleolar pathway that leads p53 to proteasome-independent degradation.
Tao T et al.
Cell Research, 2013
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
Blandin G et al.
Skeletal Muscle, 2013
C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
Jaka O et al.
Neurogenetics, 2012
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Kramerova I et al.
Human Molecular Genetics, 2012
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
Sáenz A et al.
Muscle & Nerve, 2011
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Ermolova N et al.
Human Molecular Genetics, 2011
Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.
Ojima K et al.
Journal of Molecular Biology, 2011
Calpain chronicle--an enzyme family under multidisciplinary characterization.
Sorimachi H et al.
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2011
A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle.
Laure L et al.
The Febs Journal, 2010
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
Sarparanta J et al.
The Journal of Biological Chemistry, 2010
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
de Morrée A et al.
Plos One, 2010
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
Ojima K et al.
The Journal of Clinical Investigation, 2010
Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
Ono Y et al.
The Journal of Biological Chemistry, 2010
Genetic defects in muscular dystrophy.
Chandrasekharan K et al.
Methods in Enzymology, 2010
Expanding members and roles of the calpain superfamily and their genetically modified animals.
Sorimachi H et al.
Experimental Animals, 2010
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Kramerova I et al.
Human Molecular Genetics, 2009