Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation-Reference-Cited by-同舟云学术

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Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation

Published:2021-03-30 Issue:5 Volume:35 Page:
ISSN:0892-6638
Container-title:The FASEB Journal
language:en
Short-container-title:FASEB j.

Author:

Hanna Amy D.¹,Lee Chang Seok¹,Babcock Lyle¹,Wang Hui¹,Recio Joseph¹,Hamilton Susan L.¹

Affiliation:

1. Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston TX USA

Funder

Muscular Dystrophy Association

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institutes of Health

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry,Biotechnology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1096/fj.202001653RR

Reference72 articles.

1. ACASQ1founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

2. A Mutation in theCASQ1Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

3. The clinical spectrum of CASQ1-related myopathy

4. SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

5. Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE;Journal of Muscle Research and Cell Motility;2024-08-10

2. Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads;Communications Biology;2023-09-14

3. Transcriptome-wide analysis reveals the molecular mechanisms of cannabinoid type II receptor agonists in cardiac injury induced by chronic psychological stress;Frontiers in Genetics;2023-01-10

4. Redox Signaling and Stress in Inherited Myopathies;Antioxidants & Redox Signaling;2022-08-01

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