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ProteomicsProteomics analysis of lysosomes and whole cell lysates from H4 cellsLysosome, H4, glucocerebrosidase
Studies have shown that the majority of Parkinson's disease patients have at least one putative damaging variant in a lysosomal storage disorder gene (60%) and in about 10% of sporadic PD subjects, the disease is associated with mutations in GBA1, a gene coding for glucocerebrosidase, a lysosomal hy...
ORGANISM(S): Homo sapiens (Human) 
2023-03-24 | PXD036361 | Pride
Lysosome Glucocerebrosidase H4 
ProteomicsProteomic analysis of Angelman mouse models
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of neuronal E3 ligase UBE3A. Restoring UBE3A levels is a potential disease-modifying therapy for AS and has recently entered clinical trials. There is paucity of data regarding the molecular changes downstream of UBE3A...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2021-08-12 | MSV000087972 | MassIVE
TranscriptomicsModeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors [Cell Model]
Tuberous sclerosis complex (TSC) is a rare genetic disease characterized by mTOR hyperfunction induced benign tumor growths in multiple organs and neurological symptoms. Because the molecular pathology is highly complex and the etiology poorly understood we employed a defined human neuronal model wi...
ORGANISM(S): Homo sapiens 
2016-07-25 | E-GEOD-78959 | biostudies-arrayexpress
TranscriptomicsModeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors [Treatment]
Tuberous sclerosis complex (TSC) is a rare genetic disease characterized by mTOR hyperfunction induced benign tumor growths in multiple organs and neurological symptoms. Because the molecular pathology is highly complex and the etiology poorly understood we employed a defined human neuronal model wi...
ORGANISM(S): Homo sapiens 
2016-07-25 | E-GEOD-78960 | biostudies-arrayexpress
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