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Article

Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy

16 Apr 2010

Abstract excerpt

Myotubularins are a family of dual-specificity phosphatases that act to modify phosphoinositides and regulate membrane traffic. Mutations in several myotubularins are associated with human disease. Sequence changes in MTM1 and MTMR14 (also known as Jumpy) have been detected in patients with a severe skeletal myopathy called centronuclear myopathy. MTM1 has been characterized in vitro and in several model systems,...

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PMID: 20400459
DOI: 10.1093/hmg/ddq153

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