Mar 7, 2013 · Seven cases were found to carry CMT4-causing gene mutations: one case with a GDAP1 mutation, one case with an MTMR2 mutation, two cases with ...

MTMR2 encodes a ubiquitously expressed phosphatase whose preferred substrate is phosphatidylinositol (3,5)-biphosphate, a regulator of membrane homeostasis ...

Jan 16, 2009 · Previtali et al. found that NEFL interacts with MTMR2 in both Schwann's cells and neurons. In addition, MTMR2 encodes a phosphatase and MTMR2 ...

Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral neuropathy-affecting motor and sensory nerves of the peripheral nervous system. The ...

... MTMR knock-out mice display distinct phenotypes. Because MTMR2 forms a heterotetramer with MTMR13 (9), mutation in MTMR2 and MTMR13 causes Charcot-Marie ...

MTMR2 can bind to the catalytically inactive MTMR family members MTMR5 and ... MTMR2 knockout mice bearing loxP sites flanking exon 6 of the MTMR2 gene.

Charcot-Marie-Tooth disease (CMT) is the most common phenotype of inherited peripheral neuropathy (IPN), the latter of which also encompass hereditary sensory ...

Mar 18, 2019 · Based on crystal structures of MTMR1 and MTMR2, and the identity of primary sequences among MTMR1, MTMR2, and myotubularin, the structural ...

OCRL1, myotubularin-related (MTMR) 1, and MTMR2 were identified as the genes responsible for the above-mentioned human genetic disorders, respectively ...

Jul 2, 2018 · The myotubularin-related protein (MTMR) family of 3'-specific phosphoinositide phosphatases can convert PI(3)P back to phosphatidylinositol (PI) ...