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ProteomicsProteomic signature of NPC1 KO microglia from conditional KO mice
Niemann-Pick type C (NPC) disease is a rare neurodegenerative disorder mainly caused by autosomal recessive mutations in Npc1 which result in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is one of the prominent pathological features, consequences of NPC1 loss on microglial ...
ORGANISM(S): Mus musculus (Mouse) 
2021-02-09 | PXD019452 | Pride
Mouse Niemann-pick disease Microglia Neurodegeneration 
ProteomicsProteomic analysis of monocyte derived macrophages from Niemann-Pick disease type C patients
Niemann-Pick type C disease is a rare neurodegenerative disorder mainly caused by mutations in Npc1, resulting in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is a prominent pathological feature, direct consequences of NPC1 loss on microglial function remain uncharacterized...
ORGANISM(S): Homo sapiens (Human) 
2021-02-09 | PXD020659 | Pride
Npc Macrophage Lysosomal storage disorder 
ProteomicsProteomic signature of NPC1 KO microglia
Niemann-Pick type C (NPC) disease is a rare neurodegenerative disorder mainly caused by autosomal recessive mutations in Npc1 which result in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is one of the prominent pathological features, consequences of NPC1 loss on microglial ...
ORGANISM(S): Mus musculus (Mouse) 
2021-02-09 | PXD019447 | Pride
Npc1 Niemann-pick disease Microglia Neurodegeneration 
UnknownLoss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Not available
S-EPMC7904859 | biostudies-literature
GenomicsAnalysis of translatome, truncating mutations, lncRNA, circRNA and microproteins of 80 human DCM cases and controls
The regulation of gene expression in healthy and diseased human tissues is incompletely understood and has primarily been studied on the transcriptional level. Here, we quantify the impact of translation on gene expression and annotate novel translational events in 80 human hearts. These include 65 ...
EGAS00001003263 | EGA
Genomics1fcf2848-b51f-450f-a20d-02c6d8156eb7 - samples
Dataset consists of fastq files of Ribo-seq, polyA-RNA and total RNA sequencing of 80 samples (65 DCM cases and 15 controls)
EGAD00001004394 | EGA
Genomicsena-DATASET-RTL-06-02-2015-14:59:15:066-180 - samples
RNA-sequencing (RNA-seq) was performed with RNA extracted from fresh-frozen human tumor tissue samples. cDNA libraries were prepared from poly-A selected RNA applying the Illumina TruSeq protocol for mRNA. The libraries were then sequenced with a 2 x 100bp paired-end protocol to a minimum mean cover...
EGAD00001001244 | EGA
GenomicsDAC for Cardiac Translatomes of 80 Human Samples (65 DCM cases 15 controls)
Data Access Committee EGAC00001001040
EGAC00001001040 | EGA
Genomicsena-DATASET-RTL-11-03-2015-12:07:49:303-16 - samples
Whole genome sequencing was performed with DNA extracted from fresh-frozen tumor and normal material. Short insert DNA libraries were prepared with the TruSeq DNA PCRfree sample preparation kit (Illumina) for paired-end sequencing at a minimum read length of 2x100bp. Human DNA libraries were sequenc...
EGAD00001001273 | EGA
GenomicsComprehensive genomic profiles of small cell lung cancer
We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the deadliest human cancers. We found bi-allelic inactivation of TP53 and RB1 in nearly all the tumors analyzed, sometimes by complex genomic rearrangements. Two tumors with wild-type RB1 had evidence of chromothripsis leadi...
EGAS00001000925 | EGA
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