Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV

THE RENEWAL OF PHOTORECEPTOR CELL OUTER SEGMENTS

Richard W. Young · The Journal of Cell Biology · 1967 · 1.2K citations · Full text

Life Sciences, Biochemistry, Cell Biology +13

The<i>Rd8</i>Mutation of the<i>Crb1</i>Gene Is Present in Vendor Lines of C57BL/6N Mice and Embryonic Stem Cells, and Confounds Ocular Induced Mutant Phenotypes

Mary J. Mattapallil, Eric F. Wawrousek, Chi‐Chao Chan et al. · Investigative Ophthalmology & Visual Science · 2012 · 698 citations · Full text

Medicine, Genetics, Ophthalmology +13

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

Life Sciences, Cell Biology, Molecular Biology +5

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

Life Sciences, Cell Biology, Molecular Biology +17

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

Life Sciences, Genetics, Molecular Genetics +17