Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism.
Li, Qingtian; Lei, Fan; Tang, Yi; Pan, Jenny Szu-Chin; Tong, Qiang; Sun, Yuxiang; Sheikh-Hamad, David.
Cell Mol Life Sci
; 75(21): 4021-4040, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29916093
OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin.
dOCRL maintains immune cell quiescence by regulating endosomal traffic.
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
The oculocerebrorenal syndrome of Lowe: an update.
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.