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A dysfunctional desmin mutation in a patient with severe generalized myopathy

หน่วยงาน Nanyang Technological University, Singapore

รายละเอียด

ชื่อเรื่อง : A dysfunctional desmin mutation in a patient with severe generalized myopathy
นักวิจัย : Munoz-Marmol, Ana M. , Strasser, Geraldine , Isamat, Marcos , Coulombe, Pierre A. , Yang, Yanmin , Roca, Xavier , Vela, Elena , Mate, José L. , Coll, Jaume , Fernández-Figueras, María Teresa , Navas-Palacios, José J. , Ariza, Aurelio , Fuchs, Elaine
คำค้น : DRNTU::Science::Biological sciences.
หน่วยงาน : Nanyang Technological University, Singapore
ผู้ร่วมงาน : -
ปีพิมพ์ : 2541
อ้างอิง : Munoz-Marmol, A. M., Strasser, G., Isamat, M., Coulombe, P. A., Yang, Y., & Roca, X., et al. (1998). A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proceedings of the National Academy of Sciences of the United States of America, 95(19), 11312-11317. , http://hdl.handle.net/10220/8864 , http://dx.doi.org/10.1073/pnas.95.19.11312
ที่มา : -
ความเชี่ยวชาญ : -
ความสัมพันธ์ : National Academy of Sciences of the United States of America
ขอบเขตของเนื้อหา : -
บทคัดย่อ/คำอธิบาย :

Mice lacking desmin produce muscle fibers with Z disks and normal sarcomeric organization. However, the muscles are mechanically fragile and degenerate upon repeated contractions. We report here a human patient with severe generalized myopathy and aberrant intrasarcoplasmic accumulation of desmin intermediate filaments. Muscle tissue from this patient lacks the wild-type desmin allele and has a desmin gene mutation encoding a 7-aa deletion within the coiled-coil segment of the protein. We show that recombinant desmin harboring this deletion cannot form proper desmin intermediate filament networks in cultured cells, nor is it able to assemble into 10-nm filaments in vitro. These findings provide direct evidence that a mutation in desmin can cause human myopathies.

บรรณานุกรม :
Munoz-Marmol, Ana M. , Strasser, Geraldine , Isamat, Marcos , Coulombe, Pierre A. , Yang, Yanmin , Roca, Xavier , Vela, Elena , Mate, José L. , Coll, Jaume , Fernández-Figueras, María Teresa , Navas-Palacios, José J. , Ariza, Aurelio , Fuchs, Elaine . (2541). A dysfunctional desmin mutation in a patient with severe generalized myopathy.
    กรุงเทพมหานคร : Nanyang Technological University, Singapore.
Munoz-Marmol, Ana M. , Strasser, Geraldine , Isamat, Marcos , Coulombe, Pierre A. , Yang, Yanmin , Roca, Xavier , Vela, Elena , Mate, José L. , Coll, Jaume , Fernández-Figueras, María Teresa , Navas-Palacios, José J. , Ariza, Aurelio , Fuchs, Elaine . 2541. "A dysfunctional desmin mutation in a patient with severe generalized myopathy".
    กรุงเทพมหานคร : Nanyang Technological University, Singapore.
Munoz-Marmol, Ana M. , Strasser, Geraldine , Isamat, Marcos , Coulombe, Pierre A. , Yang, Yanmin , Roca, Xavier , Vela, Elena , Mate, José L. , Coll, Jaume , Fernández-Figueras, María Teresa , Navas-Palacios, José J. , Ariza, Aurelio , Fuchs, Elaine . "A dysfunctional desmin mutation in a patient with severe generalized myopathy."
    กรุงเทพมหานคร : Nanyang Technological University, Singapore, 2541. Print.
Munoz-Marmol, Ana M. , Strasser, Geraldine , Isamat, Marcos , Coulombe, Pierre A. , Yang, Yanmin , Roca, Xavier , Vela, Elena , Mate, José L. , Coll, Jaume , Fernández-Figueras, María Teresa , Navas-Palacios, José J. , Ariza, Aurelio , Fuchs, Elaine . A dysfunctional desmin mutation in a patient with severe generalized myopathy. กรุงเทพมหานคร : Nanyang Technological University, Singapore; 2541.