Late breaking news e-poster presentation

The complex genetic background of inherited peripheral neuropathy or Charcot-Marie-Tooth disease (CMT) is incompletely understood. Variants in ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, have previously been proposed as candidate causes of CMT but the association has not been confirmed as no further patients have been found and no functional studies performed on the mutations until now. The inositol 1,4,5-trisphosphate receptors regulate multiple cellular processes by releasing Ca2+ from the ER.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: Julius R önkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Stephanie Humblet-Baron, Geert Bultynck, Adrian Liston, Anders Patau, Claudio Rivera, Matthew Harms, Henn Source Type: research