Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

Abstract excerpt

Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons. In line with the early onset of neuropathy observed in patients with CMT4C, our analyses of the murine model of CMT4C revealed that the myelinating properties of Sh3tc2-deficient Schwann cells...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cell Adhesion Molecules Research
• Share to Hereditary Neurological Disorders
• Share to Signaling Pathways in Disease