Common membrane trafficking defects of disease-associated dynamin 2 mutations.

ABSTRACT: Dynamin (Dyn) is a multidomain and multifunctional GTPase best known for its essential role in clathrin-mediated endocytosis (CME). Dyn2 mutations have been linked to two human diseases, centronuclear myopathy (CNM) and Charcot-Marie-Tooth (CMT) disease. Paradoxically, although Dyn2 is ubiquitously expressed and essential for embryonic development, the disease-associated Dyn2 mutants are autosomal dominant, but result in slowly progressing and tissue-specific diseases. Thus, although the cellular defects that cause disease remain unclear, they are expected to be mild. To gain new insight into potential pathogenic mechanisms, we utilized mouse Dyn2 conditional knockout cells combined with retroviral-mediated reconstitution to mimic both heterozygous and homozygous states and characterized c

SUBMITTER: Liu YW 

PROVIDER: S-EPMC3188678 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature