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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. 
ProteomicsThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II (data part II)
Heterozygous TRPV6 mutations, which reduce significantly the Ca2+-permeability of the channel, lead to chronic pancreatitis and, if both TRPV6-alleles are affected, to skeletal dysplasia with neonatal transient hyperparathyroidism (TNHP) of newborns. We show that TRPV6 channels are localized in intr...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD065789 | Pride
Transient receptor potential I-cell disease Trpv6 Mucolipidosis type ii Skeletal dysplasia Calcium channel Gnptab Chronic pancreatitis Mannose-6-phosphate 
ProteomicsThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II
Heterozygous TRPV6 mutations, which reduce significantly the Ca2+-permeability of the channel, lead to chronic pancreatitis and, if both TRPV6-alleles are affected, to skeletal dysplasia with neonatal transient hyperparathyroidism (TNHP) of newborns. We show that TRPV6 channels are localized in intr...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD065752 | Pride
Transient receptor potential I-cell disease Trpv6 Mucolipidosis type ii Skeletal dysplasia Calcium channel Gnptab Chronic pancreatitis Mannose-6-phosphate 
ProteomicsLysoIP-based lysosomal proteomic analysis of WT and mucolipidosis II mouse fibroblasts
This project contains LC–MS/MS-based LysoIP proteomic data from wild-type and mucolipidosis II mouse fibroblasts. The dataset supports the analysis of lysosomal proteome remodeling in a Gnptab p.R364X knock-in mouse model of mucolipidosis II.
ORGANISM(S): Mus Musculus 
PXD078968 |
UnknownVacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.
Not available
S-EPMC3078071 | biostudies-literature
UnknownHip Morphology in Mucolipidosis Type II.
Not available
S-EPMC7141371 | biostudies-literature
UnknownNovel Phenotypical and Biochemical Findings in Mucolipidosis Type II.
Not available
S-EPMC11941985 | biostudies-literature
UnknownCharacterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease).
Not available
S-EPMC6620033 | biostudies-literature
UnknownPlacental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.
Not available
S-EPMC8025142 | biostudies-literature
UnknownTerm Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome.
Not available
S-EPMC7183396 | biostudies-literature
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