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Volumn 23, Issue 12, 2007, Pages 1080-1082

Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy;Mutations de l'amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives

Author keywords

[No Author keywords available]

Indexed keywords

AMPHIPHYSIN; GUANOSINE TRIPHOSPHATASE; PHOSPHATIDYLINOSITIDE;

EID: 37849051152     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/200723121080     Document Type: Note
Times cited : (3)

References (10)
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  • 3
    • 27644543614 scopus 로고    scopus 로고
    • Mutations in dynamin 2 cause dominant centronuclear myopathy
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    • The dynamin superfamily: Universal membrane tubulation and fission molecules?
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  • 5
    • 0037119615 scopus 로고    scopus 로고
    • Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle
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  • 6
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    • Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila
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  • 7
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    • Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation
    • Owen DJ, Wigge P, Vallis Y, et al. Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation. EMBO J 1998 ; 17 : 5273-85.
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  • 8
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    • Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    • Nicot AS, Toussaint A, Tosch V, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007 ; 39 : 1134-9.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.