A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

CHENG-CHANG CHENKeller M.Hess M.Schiffmann R.Urban N.Wolfgardt A.Schaefer M.Bracher F.Biel M.Wahl-Schott C.Grimm C.2021-02-222021-02-2220142041-1723https://scholars.lib.ntu.edu.tw/handle/123456789/549156A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IVjournal article10.1038/ncomms5681251192952-s2.0-84907320441