Associated Papers
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.
Xia X et al.
Journal of Human Genetics, 2026
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.
Laarne M et al.
Journal of Neurology, 2025
CASQ1-related myopathy with additional primary Sjogren's disease: a case report.
Hu N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE.
Gamberucci A et al.
Journal of Muscle Research and Cell Motility, 2024
The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.
Marabelli C et al.
Biomolecules, 2023
CASQ1-related myopathy: The first report from China and the literature review.
Zhang KY et al.
Clinical Case Reports, 2022
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Critical role of Znhit1 for postnatal heart function and vacuolar cardiomyopathy.
Shi Y et al.
Jci Insight, 2022
Functional Calsequestrin-1 Is Expressed in the Heart and Its Deficiency Is Causally Related to Malignant Hyperthermia-Like Arrhythmia.
Sun Z et al.
Circulation, 2021
Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Hanna AD et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.
Yang Y et al.
Metabolic Brain Disease, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
[Tubular aggregate myopathy and Stormorken syndrome].
Böhm J et al.
Medecine Sciences : M/s, 2018
The clinical spectrum of CASQ1-related myopathy.
Semplicini C et al.
Neurology, 2018
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Böhm J et al.
Acta Neuropathologica, 2018
Abstracts of EMC2017.
Unknown Author
Journal of Muscle Research and Cell Motility, 2017
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V et al.
Human Mutation, 2017
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Treves S et al.
Seminars in Cell & Developmental Biology, 2017
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
D'Adamo MC et al.
Plos One, 2016
Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
Lewis KM et al.
The Journal of Biological Chemistry, 2015
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
Di Blasi C et al.
Journal of Medical Genetics, 2015
The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle.
Ríos E et al.
The Journal of General Physiology, 2015
Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.
Paolini C et al.
Skeletal Muscle, 2015
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Rossi D et al.
Human Mutation, 2014