FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.

Ruparelia, Avnika A; Oorschot, Viola; Ramm, Georg; Bryson-Richardson, Robert J

Ruparelia, Avnika A; Oorschot, Viola; Ramm, Georg; Bryson-Richardson, Robert J.

Affiliation

Ruparelia AA; School of Biological Sciences.
Oorschot V; The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy and and.
Ramm G; The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy and and Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia.
Bryson-Richardson RJ; School of Biological Sciences, robert.bryson-richardson@monash.edu.

Hum Mol Genet ; 25(11): 2131-2142, 2016 06 01.

Article in En | MEDLINE | ID: mdl-26969713

Subject(s)

Autophagy/genetics; Filamins/genetics; Muscle Fibers, Skeletal/pathology; Myopathies, Structural, Congenital/genetics; Animals; Gene Expression Regulation; Humans; Muscle Fibers, Skeletal/metabolism; Muscle, Skeletal/pathology; Mutation; Myofibrils/genetics; Myofibrils/pathology; Phenotype; Protein Aggregation, Pathological/genetics; Sarcomeres/genetics; Sarcomeres/pathology; Zebrafish/genetics

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Database: MEDLINE Main subject: Autophagy / Muscle Fibers, Skeletal / Myopathies, Structural, Congenital / Filamins Limits: Animals / Humans Language: En Year: 2016 Type: Article

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