Molecular mechanisms regulating the myotubularin-related 2 lipid phosphatase mutated in the neuromuscular disorder Charcot-Marie Tooth disease
Molecular mechanisms regulating the myotubularin-related 2 lipid phosphatase mutated in the neuromuscular disorder Charcot-Marie Tooth disease
批准号:
254181
负责人:
Vacratsis Panayiotis
金额:
$23.71万
依托单位国家:
加拿大
项目类别:
Operating Grants
财政年份:
2012
资助国家:
加拿大
项目状态:
已结题
起止时间:
2012-03-01 至 2016-03-01
中文摘要
肌管蛋白(MTM)酶从酵母到人类都是保守的。三个MTM基因已被发现突变,往往致命和衰弱的神经肌肉疾病肌管肌病(MTM 1)和Charcot-Marie牙病(MTMR 2和MTMR 13)。进一步
英文摘要
The myotubularin (MTM) enzymes are conserved from yeast to humans. Three MTM genes have been found mutated in the often fatal and debilitating neuromuscular diseases myotubular myopathy (MTM1) and Charcot-Marie tooth disease (MTMR2 and MTMR13). Furthermor
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