Ontology highlight
ABSTRACT:
SUBMITTER: Li M
PROVIDER: S-EPMC5336481 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Nature structural & molecular biology 20170123 3
The activities of organellar ion channels are often regulated by Ca<sup>2+</sup> and H<sup>+</sup>, which are present in high concentrations in many organelles. Here we report a structural element critical for dual Ca<sup>2+</sup>/pH regulation of TRPML1, a Ca<sup>2+</sup>-release channel crucial for endolysosomal function. TRPML1 mutations cause mucolipidosis type IV (MLIV), a severe lysosomal storage disorder characterized by neurodegeneration, mental retardation and blindness. We obtained cry ...[more]