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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
GenomicsHeterogeneity in Lysosomal Storage Disorders
Heterogeneity in Lysosomal Storage Disorders
PRJNA1033709 | ENA
GenomicsHeterogeneity in Lysosomal Storage Disorders
Heterogeneity in Lysosomal Storage Disorders
PRJNA1033710 | ENA
ProteomicsCombined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in Pompe disease
Pompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of ?-glucosidase enzyme. The laboratory testing for Pompe is usually performed by enzyme activity, genetic test, or urine glucose tetrasaccharide (Glc4) screening by HPLC. ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-11-07 | MSV000088329 | MassIVE
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
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
ProteomicsTranscriptional control of lysosomal homeostasis by the disease-related CLN3 membrane protein
CLN3 is a type II transmembrane protein localized in the late endosomal/lysosomal compartment. A deficiency of CLN3 leads to the development of a certain type of Neuronal Ceroid Lipofuscinosis, a neurodegenerative disorder of childhood caused by aggregation of undegraded material in the lysosomal co...
ORGANISM(S): Mus musculus (Mouse) 
2019-05-13 | PXD004548 | Pride
Mouse Lysosomal storage disease Cerbellar cells 
GenomicsReactivation of mTOR signaling slows neurodegeneration in a lysosomal storage disease
Reactivation of mTOR signaling slows neurodegeneration in a lysosomal storage disease
PRJNA1150620 | ENA
GenomicsHuman iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C
Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C
PRJNA662369 | ENA
ProteomicsTagless LysoIP method for molecular profiling of lysosomal content in clinical samples
Lysosomes are implicated in a wide spectrum of human diseases including monogenic lysosomal storage disorders (LSDs), age-associated neurodegeneration and cancer. Profiling lysosomal content using tag-based lysosomal immunopurification (LysoIP) in cell and animal models allowed major discoveries in ...
ORGANISM(S): Homo sapiens (Human) 
2025-01-31 | PXD052082 | Pride
Metabolomics Proteomics Dia Lysosomal storage disorder Lipidomics Lysosome Mass spectrometry 
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