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GenomicsHeterogeneity in Lysosomal Storage Disorders
Heterogeneity in Lysosomal Storage Disorders
PRJNA1033709 | ENA
GenomicsHeterogeneity in Lysosomal Storage Disorders
Heterogeneity in Lysosomal Storage Disorders
PRJNA1033710 | ENA
UnknownImpact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.
Not available
S-EPMC8652804 | biostudies-literature
TranscriptomicsExpression data from brain, liver and spleen of Npc1-/- mice
Niemann-Pick Type C (NPC) disease is a rare, genetic, lysosomal disorder with progressive neurodegeneration. Poor understanding of the pathophysiology and lack of blood-based diagnostic markers are major hurdles in the treatment and management of NPC and several additional neurological, lysosomal di...
ORGANISM(S): Mus musculus 
2012-12-27 | E-GEOD-39621 | biostudies-arrayexpress
UnknownNatural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation.
Not available
S-EPMC7026617 | biostudies-literature
ProteomicsLFQ DIA to analyze the proteome of NPC mutant iNeurons with and without ferric ammonium citrate
Label-free quantification (LFQ) using data-independent acquisition (DIA) on the Orbitrap Astral was performed to analyze the proteome of iNeurons with NPC1 and NPC2 knocked out. The experiment includes the following time points of development: day 0, 4, 8, 16, and 22. All samples were cultured in re...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
MSV000095985 | MassIVE
ProteomicsLysosomal storage disease proteo/lipidomic profiling using nMOST links ferritinophagy with mitochondrial iron deficiencies in cells lacking NPC2
Lysosomal storage diseases (LSDs) comprised ~50 gene loci causing the accumulation of cellular material in the lysosome and associated defects in lysosomal function, but systematic molecular phenotyping is lacking. Here, we apply a nanoflow-based multi-omic single-shot technology (nMOST) workflow to...
ORGANISM(S): Homo sapiens (Human) 
2024-10-08 | PXD049336 | Pride
Ferritinophagy Multiplexed tmt proteomics Oxphos Lysosomal storage disorders Mitochondrial function 
ProteomicsVisualization of lysosomal membrane proteins by cryo-electron tomography
Dysfunction in lysosomal membrane proteins and their associated complexes impairs the lysosome's essential role as a key signaling hub within the cell. This disruption underlies severe neurological disorders, such as lysosomal storage diseases and cancer. While direct visualization of the proteomic ...
ORGANISM(S): Homo sapiens (Human) 
2025-10-17 | PXD055923 | Pride
Lysosomes Lysosomal storage disorders Cryo-electron tomografy Protein structures 
UnknownLysosomal storage disorders in the newborn.
Not available
S-EPMC2768319 | biostudies-literature
TranscriptomicsLCM-based microarray analysis of neuronal vulnerability in the mouse model of Sanfilippo syndrome (MPSIIIB)
Sanfilippo syndrome type B (MPS III B) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia. The primary cause is mutation in the NAGLU gene, resulting in deficiency of N-acetylglucosaminidase and lysosomal accumulation of hepara...
ORGANISM(S): Mus musculus 
2009-04-22 | E-GEOD-15758 | biostudies-arrayexpress
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