The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

Human Molecular Genetics

Volumn 10, Issue 17, 2001, Pages 1761-1766

  Matsuda, Chie ^a,b,d   Hayashi, Yukiko K ^b   Ogawa, Megumu ^b   Aoki, Masashi ^c   Murayama, Kumiko ^b   Nishino, Ichizo ^b   Nonaka, Ikuya ^b   Arahata, Kiichi ^b   Brown Jr , Robert H ^d  

^a NATIONAL INSTITUTE OF ADVANCED INDUSTRIAL SCIENCE AND TECHNOLOGY AIST   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BINDING PROTEIN; CAVEOLIN 3; DYSFERLIN; MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE CLASSIFICATION; HUMAN; HUMAN TISSUE; HYPOTHESIS; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DOMAIN; PROTEIN INTERACTION; PROTEIN LOCALIZATION; PROTEIN MOTIF; RECESSIVE INHERITANCE; SARCOLEMMA; SIGNAL TRANSDUCTION; SKELETAL MUSCLE;

EID: 0035880516     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.17.1761     Document Type: Article

References (24)

1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
2. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
3. The third human FER-1-like protein is highly similar to dysferlin
4. Myoferlin, a candidate gene and potential modifier of muscular dystrophy
5. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a non-syndromic form of deafness
6. C2-domains, structure and function of a universal Ca2+-binding domain
7. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle
8. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
9. Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the Golgi complex
10. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
11. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
12. Dysferlin is a plasma membrane protein and is expressed early in human development
13. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
14. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
15. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
16. Identification of peptide and protein ligands for the caveolin-scaffolding domain. Implications for the interaction of caveolin with caveolae-associated proteins
17. Caveolin-3 directly interacts with the C-terminal tail of β-dystroglycan. Identification of a central WW-like domain within caveolin family members
18. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
19. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
20. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and miyoshi myopathy (primary dysferlinopathies)
21. Muscular dystrophy
22. The sarcoglycan complex in limb-girdle muscular dystrophy
23. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
24. The earliest pathological alterations in dysferlinopathy