Gene expression profile in individuals affected by Mucolipidosis type IV
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: andrea bozzato
PROVIDER: E-GEOD-5444 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology.
Bozzato Andrea A Barlati Sergio S Borsani Giuseppe G
Biochimica et biophysica acta 20080118 4
Mucolipidosis type IV (MLIV, MIM 252650) is an autosomal recessive lysosomal storage disorder that causes mental and motor retardation as well as visual impairment. The lysosomal storage defect in MLIV is consistent with abnormalities of membrane traffic and organelle dynamics in the late endocytic pathway. MLIV is caused by mutations in the MCOLN1 gene, which codes for mucolipin-1 (MLN1), a member of the large family of transient receptor potential (TRP) cation channels. Although a number of st ...[more]
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