Article
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
Human molecular genetics - 15 Sept 2016
Fogarty Elizabeth A, Brewer Megan H, Rodriguez-Molina Jose F, Law William D, Ma Ki H, Steinberg Noah M, Svaren John, Antonellis Anthony
Abstract excerpt
Schwann cells are the myelinating glia of the peripheral nervous system and dysfunction of these cells causes motor and sensory peripheral neuropathy. The transcription factor SOX10 is critical for Schwann cell development and maintenance, and many SOX10 target genes encode proteins required for Schwann cell function. Loss-of-function mutations in the gene encoding myotubularin-related protein 2 (MTMR2) cause...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.