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Mapping domains and mutations on the skeletal muscle ryanodine receptor channel

Hwang, J. H. and Zorzato, F. and Clarke, N. F. and Treves, S.. (2012) Mapping domains and mutations on the skeletal muscle ryanodine receptor channel. Trends in Molecular Medicine, 18 (11). pp. 644-657.

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Official URL: http://edoc.unibas.ch/dok/A6174393

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Abstract

The skeletal muscle ryanodine receptor isoform 1 (RyR1) is a calcium release channel involved in excitation-contraction coupling, the process whereby an action potential is translated to a cytoplasmic Ca(2+) signal that activates muscle contraction. Dominant and recessive mutations in RYR1 cause a range of muscle disorders, including malignant hyperthermia and several forms of congenital myopathies. Many aspects of disease pathogenesis in ryanodinopathies remain uncertain, particularly for those myopathies due to recessive mutations. A thorough understanding of the ryanodine receptor macromolecular complex and its interactions with proteins and small molecular modulators is an essential starting point from which to investigate disease mechanisms.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin
03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Perioperative Patient Safety (Girard/Treves)
UniBasel Contributors:Zorzato, Francesco and Treves, Susan
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Elsevier
ISSN:1471-4914
e-ISSN:1471-499X
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
Identification Number:
Last Modified:31 May 2017 09:55
Deposited On:25 Oct 2013 08:33

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