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
Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.
Abdel Aleem AF et al.
Pediatric Neurology, 2026
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
Karthikeyan P et al.
Molecular Genetics & Genomic Medicine, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S et al.
Frontiers in Genetics, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
Ganaraja VH et al.
Global Medical Genetics, 2022
CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review).
Chen L et al.
International Journal of Molecular Medicine, 2021
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L et al.
Neuropathology and Applied Neurobiology, 2021
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
Understanding the interaction determinants of CAPN1 inhibition by CAST4 from bovines using molecular modeling techniques.
Chai HH et al.
Molecules (basel, Switzerland), 2014
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Hauerslev S et al.
Bmc Musculoskeletal Disorders, 2012
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
Transcriptional and translational effects of intronic CAPN3 gene mutations.
Nascimbeni AC et al.
Human Mutation, 2010
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
Fanin M et al.
Journal of Medical Genetics, 2007
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Cobo AM et al.
Human Biology, 2004
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.
Kramerova I et al.
Human Molecular Genetics, 2004
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
Fanin M et al.
The American Journal of Pathology, 2003
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Jia Z et al.
Biophysical Journal, 2001
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Ono Y et al.
The Journal of Biological Chemistry, 1998
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].
Urtasun M et al.
Medicina Clinica, 1998
[Alterations in functional proteins. Calpaine-3 deficiency].
López de Munain A et al.
Revista De Neurologia, 0