Concepedia

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

Cheng‐Chang Chen, Marco Keller, Raphael Schiffmann, Nicole Urban, Annette Wolfgardt, Michael Schaefer, Franz Bracher, Martin Biel, Christian Wahl‐Schott, Christian Grimm

Nature Communications · 2014 · 160 citations · 47 references

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47

Cell Sensitivity Assays: The MTT Assay

Johan van Meerloo, Gertjan J.L. Kaspers, Jacqueline Cloos · Methods in molecular biology · 2011 · 2.5K citations

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PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome

Xian‐Ping Dong, Dongbiao Shen, Xiang Wang et al. · Nature Communications · 2010 · 634 citations · Full text

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The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

Xian‐Ping Dong, Xiping Cheng, Eric Mills et al. · Nature · 2008 · 561 citations · Full text

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Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

Dongbiao Shen, Xiang Wang, Xinran Li et al. · Nature Communications · 2012 · 495 citations · Full text

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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Mei Sun · Human Molecular Genetics · 2000 · 456 citations

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