Disease-related Myotubularins Function in Endocytic Traffic in Caenorhabditis elegansD⃞
AUTOR(ES)
Dang, Hope
FONTE
The American Society for Cell Biology
RESUMO
MTM1, MTMR2, and SBF2 belong to a family of proteins called the myotubularins. X-linked myotubular myopathy, a severe congenital disorder characterized by hypotonia and generalized muscle weakness in newborn males, is caused by mutations in MTM1 (Laporte et al., 1996). Charcot-Marie-Tooth types 4B1 and 4B2 are severe demyelinating neuropathies caused by mutations in MTMR2 (Bolino et al., 2000) and SBF2/MTMR13 (Senderek et al., 2003), respectively. Although several myotubularins are known to regulate phosphoinositide-phosphate levels in cells, little is known about the actual cellular process that is defective in patients with these diseases. Mutations in worm MTM-6 and MTM-9, myotubularins belonging to two subgroups, disorganize phosphoinositide 3-phosphate localization and block endocytosis in the coelomocytes of Caenorhabditis elegans. We demonstrate that MTM-6 and MTM-9 function as part of a complex to regulate an endocytic pathway that involves the Arf6 GTPase, and we define protein domains required for MTM-6 activity.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=307539Documentos Relacionados
- Peripheral Vascular Disease–Related Procedures in Dialysis Patients: Predictors and Prognosis
- Cell surface expression of the Alzheimer disease-related presenilin proteins
- EICO (Expression-based Imprint Candidate Organizer): finding disease-related imprinted genes
- Discovery and analysis of inflammatory disease-related genes using cDNA microarrays
- Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus.