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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. 
ProteomicsPIAS2b dsRNAi repression kills by mitotic catastrophe anaplastic thyroid and non-thyroid carcinomas, but not normal thyroid or differentiated carcinomas
The E3 SUMO ligase PIAS2 is expressed at high levels in differentiated papillary thyroid carcinomas but at low levels in anaplastic thyroid carcinomas (ATC), an undifferentiated cancer with very high mortality. Double-stranded RNA–directed RNA interference (dsRNAi) targeting the PIAS2 isoform beta (...
ORGANISM(S): Homo sapiens (Human) 
2024-04-08 | PXD044110 | Pride
Sumo-affinity columna Pias2 Anaplastic thyroid cancer Immunoprecipitation E3 sumo ligase 
UnknownMortality and clinical characteristics of multisystem inflammatory syndrome in children (MIS-C) associated with covid-19 in critically ill patients: an observational multicenter study (MISCO study).
Not available
S-EPMC8600488 | biostudies-literature
UnknownHyperoxemia and excess oxygen use in early acute respiratory distress syndrome: insights from the LUNG SAFE study.
Not available
S-EPMC7110678 | biostudies-literature
UnknownColombian surgical outcomes study insights on perioperative mortality rate, a main indicator of the lancet commission on global surgery - a prospective cohort study.
Not available
S-EPMC11382124 | biostudies-literature
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