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Catalytically defective ganglioside neuraminidase in mucolipidosis IV

✍ Scribed by Yoav Ben-Yoseph; Toru Momoi; Lisa C. Hahn; Henry L. Nadler

Book ID
119839310
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
522 KB
Volume
21
Category
Article
ISSN
0009-9163

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## Abstract Mucolipidosis type IV (MLIV) is a lysosomal storage disorder caused by mutations in the __MCOLN1__ gene, a member of the transient receptor potential (TRP) cation channel gene family. The encoded protein, transient receptor potential mucolipin‐1 (TRPML1), has been localized to lysosomes