Ontology highlight
ABSTRACT:
SUBMITTER: Vaccari I
PROVIDER: S-EPMC4275070 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Vaccari Ilaria I Carbone Antonietta A Previtali Stefano Carlo SC Mironova Yevgeniya A YA Alberizzi Valeria V Noseda Roberta R Rivellini Cristina C Bianchi Francesca F Del Carro Ubaldo U D'Antonio Maurizio M Lenk Guy M GM Wrabetz Lawrence L Giger Roman J RJ Meisler Miriam H MH Bolino Alessandra A
Human molecular genetics 20140903 2
Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P₂ levels, cell-specific sensitivity to partial loss of FIG4 function may differentiate FIG4-associated disorders. CMT4J is an autosomal recessive neuropathy characterized by severe demyelination and axonal loss in human, with both motor and sensory involve ...[more]