Ontology highlight
ABSTRACT:
SUBMITTER: Guiberson NGL
PROVIDER: S-EPMC6162227 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Guiberson Noah Guy Lewis NGL Pineda André A Abramov Debra D Kharel Parinati P Carnazza Kathryn E KE Wragg Rachel T RT Dittman Jeremy S JS Burré Jacqueline J
Nature communications 20180928 1
Heterozygous de novo mutations in the neuronal protein Munc18-1 are linked to epilepsies, intellectual disability, movement disorders, and neurodegeneration. These devastating diseases have a poor prognosis and no known cure, due to lack of understanding of the underlying disease mechanism. To determine how mutations in Munc18-1 cause disease, we use newly generated S. cerevisiae strains, C. elegans models, and conditional Munc18-1 knockout mouse neurons expressing wild-type or mutant Munc18-1, ...[more]