期刊
MOLECULAR GENETICS AND METABOLISM
卷 89, 期 4, 页码 339-348出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2006.05.016
关键词
mucolipin; mucolipidosis; MLIV; lysosome; exocytosis; channel; late endosome; trafficking
资金
- NINDS NIH HHS [NS39995] Funding Source: Medline
Mucolipidosis type IV (MLIV) is an autosomal recessive disease characterized by severe neurological impairment, oplithalmologic defects, and gastric dysfunction. MLIV cells have a deficiency in the late endosomal/lysosomal (LEL) pathway that results in the buildup of lysosomal inclusions. Using a Xenopus oocyte expression system, we previously showed that mucolipin-1 (MLN1), the protein encoded by the MCOLN1 gene is a Ca2+-permeable non-selective cation channel that is transiently modulated by elevations in intracellular Ca2+. We further showed that MLN1 is translocated to the plasma membrane during lysosomal exocytosis. In this study we show that lysosomal exocytosis is impaired in fibroblasts from MLIV patients, indicating that MLN1 plays an active role in this process. Further, we show that transfection with wild type MLN1 cDNA rescues exocytosis, suggesting the possibility of treatments based on the restoration of this crucial cellular function. (c) 2006 Elsevier Inc. All rights reserved.
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