Loss of the golgin GM130 causes Golgi disruption, Purkinje neuron loss, and ataxia in mice.

ABSTRACT: The Golgi apparatus lies at the heart of the secretory pathway where it is required for secretory trafficking and cargo modification. Disruption of Golgi architecture and function has been widely observed in neurodegenerative disease, but whether Golgi dysfunction is causal with regard to the neurodegenerative process, or is simply a manifestation of neuronal death, remains unclear. Here we report that targeted loss of the golgin GM130 leads to a profound neurological phenotype in mice. Global KO of mouse GM130 results in developmental delay, severe ataxia, and postnatal death. We further show that selective deletion of GM130 in neurons causes fragmentation and defective positioning of the Golgi apparatus, impaired secretory trafficking, and dendritic atrophy in Purkinje cells. These cellu

SUBMITTER: Liu C 

PROVIDER: S-EPMC5240698 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature