The Phosphoinositide 3-phosphatase Mtmr2 Associates with Mtmr13, a Novel Membrane-associated Pseudophosphatase Also Mutated in Type 4b Charcot- Marie-tooth Disease
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چکیده
THE PHOSPHOINOSITIDE 3-PHOSPHATASE MTMR2 ASSOCIATES WITH MTMR13, A NOVEL MEMBRANE-ASSOCIATED PSEUDOPHOSPHATASE ALSO MUTATED IN TYPE 4B CHARCOTMARIE-TOOTH DISEASE Fred L. Robinson and Jack E. Dixon From the Departments of Pharmacology, Cellular and Molecular Medicine, and Chemistry and Biochemistry, The University of California San Diego, La Jolla, California, 92093 Running Title: Phosphatases mutated in Charcot-Marie-Tooth disease. Address correspondence to: Jack E. Dixon, Department of Pharmacology, University of California San Diego, School of Medicine, Leichtag Bldg., Rm. 284, 9500 Gilman Drive, La Jolla, CA 92093-0721, Phone: 858-822-0491; Fax: 858-822-5888; Email: [email protected]
منابع مشابه
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease type 4B (CMT4B) is a severe, demyelinating peripheral neuropathy characterized by distinctive, focally folded myelin sheaths. CMT4B is caused by recessively inherited mutations in either myotubularin-related 2 (MTMR2) or MTMR13 (also called SET-binding factor 2). MTMR2 encodes a member of the myotubularin family of phosphoinositide-3-phosphatases, which dephosphoryla...
متن کاملThe CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.
The demyelinating peripheral neuropathy Charcot-Marie-Tooth type 4B (CMT4B) is characterized by axonal degeneration and myelin outfoldings. CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, lipids which regulate endo-lys...
متن کاملLoss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Charcot-Marie-Tooth disease type 4B (CMT4B) is a severe, demyelinating peripheral neuropathy characterized by slowed nerve conduction velocity, axon loss, and distinctive myelin outfolding and infolding. CMT4B is caused by recessive mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2). Myotubularins are phosphoinositide (PI) 3-phosphatases that dephosphorylate p...
متن کاملMtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
Charcot-Marie-Tooth (CMT) disease denotes a large group of genetically heterogeneous hereditary motor and sensory neuropathies and ranks among the most common inherited neurological disorders. Mutations in the Myotubularin-Related Protein-2 (MTMR2) or MTMR13/Set-Binding Factor-2 (SBF2) genes are associated with the autosomal recessive disease subtypes CMT4B1 or CMT4B2. Both forms of CMT share s...
متن کاملThe CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling
Charcot-Marie-Tooth disease type 4B is caused by mutations in the genes encoding either the lipid phosphatase myotubularin-related protein-2 (MTMR2) or its regulatory binding partner MTMR13/SBF2. Mtmr2 dephosphorylates PI-3-P and PI-3,5-P2 to form phosphatidylinositol and PI-5-P, respectively, while Mtmr13/Sbf2 is an enzymatically inactive member of the myotubularin protein family. We have foun...
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تاریخ انتشار 2005