[HTML][HTML] Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

L Wang, B Barylko, C Byers, JA Ross… - Journal of biological …, 2010 - ASBMB
Mutations in the dynamin 2 gene have been identified in patients with autosomal dominant
forms of centronuclear myopathy (CNM). Dynamin 2 is a ubiquitously expressed∼ 100-kDa
GTPase that assembles around the necks of vesiculating membranes and promotes their
constriction and scission. It has also been implicated in regulation of the actin and
microtubule cytoskeletons. At present, the cellular functions of dynamin 2 that are affected by
CNM-linked mutations are not well defined, and the effects of these mutations on the …