Ontology highlight
ABSTRACT:
SUBMITTER: Kang L
PROVIDER: S-EPMC6974614 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Kang Lulu L Liu Yi Y Jin Ying Y Li Mengqiu M Song Jinqing J Zhang Yi Y Zhang Yao Y Yang Yanling Y
Frontiers in neurology 20200115
As a member of spectraplakin family of cytoskeletal crosslinking proteins, microtubule-actin crosslinking factor 1 (MACF1) controls cytoskeleton network dynamics. Knockout of <i>Macf1</i> in mice resulted in the developmental retardation and embryonic lethality. Spectraplakinopathy type I, a novel neuromuscular condition characterized by periodic hypotonia, lax muscles, joint contracture, and diminished motor skill, was reported to be associated with heterozygous genomic duplication involving th ...[more]