Associated Papers
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.
Valls A et al.
Cells, 2025
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.
Rico A et al.
Orphanet Journal of Rare Diseases, 2023
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Casas-Fraile L et al.
Orphanet Journal of Rare Diseases, 2020
32448375 (PubMed )
Supplement: 13023_2020_1372_MOESM1_ESM.pdf
FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Jaka O et al.
Expert Reviews in Molecular Medicine, 2017
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Toral-Ojeda I et al.
Expert Reviews in Molecular Medicine, 2016
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Kramerova I et al.
Human Molecular Genetics, 2012
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Blázquez L et al.
Neurogenetics, 2008
Gene expression profiling in limb-girdle muscular dystrophy 2A.
Sáenz A et al.
Plos One, 2008
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