Calsequestrin 1 (CASQ1) is the main Ca2+ binding protein of the sarcoplasmic reticulum (SR) of skeletal muscle fibers. We identified in patients with a vacuolar myopathy characterized by distinctive inclusions in muscle fibers a mutation in the CASQ1 gene, which results in a substitution of a conserved aspartic acid in position 244 to a glycine (D244G). This mutation represents the first mutation in CASQ1 linked to an inherited human muscle disease. The affected aspartic acid is located in a high-affinity Ca2+ binding site, close to a region of the protein proposed to be relevant for interactions between adjacent monomers. Analysis of the predicted three-dimensional structure of the mutated CASQ1 revealed a conformational change in the affe...
Calsequestrin 1 (CASQ1) is a Ca2+ binding protein of the sarcoplasmic reticulum (SR) of skeletal mu...
none19noOBJECTIVE: To identify and characterize patients with calsequestrin 1 (CASQ1)-related my...
Calsequestrin 1 (CASQ1) in skeletal muscle buffers and senses Ca2+ in the sarcoplasmic reticulum (SR...
Calsequestrin 1 (CASQ1) is the main Ca2+ binding protein of the sarcoplasmic reticulum (SR) of skele...
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myop...
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myop...
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myop...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
Calsequestrin1 (CASQ1) is the main Ca2+ buffer protein localized in the lumen of the skeletal muscle...
Abstract Calsequestrin 1 (CASQ1) is the most crucial Ca2+ binding protein localized in the sarcoplas...
Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) ...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
Calsequestrin (CASQ) is the most abundant Ca2+ binding protein localized in the sarcoplasmic reticul...
Calsequestrin 1 (CASQ1) is a Ca2+ binding protein of the sarcoplasmic reticulum (SR) of skeletal mu...
none19noOBJECTIVE: To identify and characterize patients with calsequestrin 1 (CASQ1)-related my...
Calsequestrin 1 (CASQ1) in skeletal muscle buffers and senses Ca2+ in the sarcoplasmic reticulum (SR...
Calsequestrin 1 (CASQ1) is the main Ca2+ binding protein of the sarcoplasmic reticulum (SR) of skele...
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myop...
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myop...
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myop...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
Calsequestrin1 (CASQ1) is the main Ca2+ buffer protein localized in the lumen of the skeletal muscle...
Abstract Calsequestrin 1 (CASQ1) is the most crucial Ca2+ binding protein localized in the sarcoplas...
Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) ...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
Calsequestrin (CASQ) is the most abundant Ca2+ binding protein localized in the sarcoplasmic reticul...
Calsequestrin 1 (CASQ1) is a Ca2+ binding protein of the sarcoplasmic reticulum (SR) of skeletal mu...
none19noOBJECTIVE: To identify and characterize patients with calsequestrin 1 (CASQ1)-related my...
Calsequestrin 1 (CASQ1) in skeletal muscle buffers and senses Ca2+ in the sarcoplasmic reticulum (SR...