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TranscriptomicsGene expression profile in individuals affected by Mucolipidosis type IV
We compared gene expression profiling of fibroblasts from individuals affected by Mucolipidosis type IV (MLIV) and healthy ones (AB). We directly compared MLIV indivisuals versus normal controls. A total of four technical replicate hybridizations were performed.
ORGANISM(S): Homo sapiens 
2010-05-26 | E-GEOD-5444 | biostudies-arrayexpress
ProteomicsNovel phenotypical and biochemical findings in mucolipidosis type II
Mucolipidosis type II (ML II) is a rare lysosomal storage disorder caused by deficiency of the UDP-GlcNAc:N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the mannose-6-phosphate (M6P) targeting signal for lysosomal acid hydrolases. This deficiency hinders lysosomal ...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD060270 | Pride
Mucolipidosis ii-iii  early findings  biochemistry  biomarkers  proteomic studies  lysosomal diseases. 
GenomicsThe Natural History of Mucolipidosis Type IV - LDN 6704
The Natural History of Mucolipidosis Type IV - LDN 6704
PRJNA378815 | ENA
UnknownTPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Not available
S-EPMC9449600 | biostudies-literature
TranscriptomicsGene expression profile in individuals affected by Mucolipidosis type IV
We compared gene expression profiling of fibroblasts from individuals affected by Mucolipidosis type IV (MLIV) and healthy ones (AB). Keywords: Disease state analysis
ORGANISM(S): Homo sapiens 
2008-02-11 | GSE5444 | GEO
ProteomicsMucolipidosis type IV links TRPML-1 to renal tubulopatia
Loss of function mutations in the lysosomal channel TRPML-1 cause Mucolipidosis type IV, a rare lysosomal storage disease (LSD) characterized by neurological defects, progressive vision loss and achlorhydria.1–4 Recent reports described kidney disease and renal failure in MLIV patients in the secon...
ORGANISM(S): Mus musculus (Mouse) 
2026-04-06 | PXD049984 | Pride
Mucolipidosis Renal Trmpl 
UnknownCurrent concepts in the neuropathogenesis of mucolipidosis type IV.
Not available
S-EPMC6239999 | biostudies-literature
UnknownIdentification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Not available
S-EPMC6329779 | biostudies-literature
UnknownNeurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.
Not available
S-EPMC4196941 | biostudies-literature
UnknownUnique molecular signature in mucolipidosis type IV microglia.
Not available
S-EPMC6935239 | biostudies-literature
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