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ProteomicsC9orf72 ubiquitin and interaction proteomics
C9orf72 binds SMCR8 to from a robust complex that regulates small GTPases, lysosomal integrity and autophagy. In contrast to this functional understanding, we know far less about assembly and turnover of the C9orf72-SMCR8 complex. Loss of either subunit causes the concurrent ablation of the respecti...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD039887 | Pride
Als Ftd Ubiquitin C9orf72 Smcr8 
ProteomicsCell autonomous immune dysfunction driven by disrupted autophagy in C9orf72-ALS microglia contributes to neurodegeneration
The most common genetic mutation found in familial and sporadic amyotrophic lateral sclerosis (ALS), as well as fronto-temporal dementia (FTD), is a repeat expansion in the C9orf72 gene. C9orf72 is highly expressed in human myeloid cells, and although neuroinflammation and microglial pathology are w...
ORGANISM(S): Homo sapiens (Human) 
2023-03-02 | PXD032320 | Pride
Microglia and inflammation C9orf72 mutation C9orf72 interactome Lc-ms/ms 
ProteomicsInteractome of G3BP1 in C9ORF72-ALS
Interactome of G3BP1 in C9ORF72 hexanucleotide repeat expansion carrying iPSC derived motor neurons
ORGANISM(S): Homo sapiens (Human) 
2025-06-25 | PXD065424 | Pride
C9orf72 Stress granules Als G3bp1 
ProteomicsC9ORF72 interaction with cofilin modulates actin dynamics in motoneurons
Intronic hexanucleotide expansions in C9ORF72 are common in ALS and FTLD, but it is unknown whether loss of function, toxicity by the expanded RNA or dipeptides from non ATG-initiated translation are responsible for the pathophysiology. We determined the interactome of C9ORF72 in motoneurons and fou...
ORGANISM(S): Mus musculus (Mouse) 
2016-09-30 | PXD004913 | Pride
Ftld Cofilin Als C9orf72 
ProteomicsHigh throughput screen of 100,000 small molecules in C9orf72 ALS neurons
Background. An intronic G4C2 repeat expansion in the C9orf72 gene is the major known cause for Amyotrophic Lateral Sclerosis. There is evidence forthree possible disease mechanisms: a pathological gain of function of nuclear repeat RNA foci, repeat associated noncanonical (RAN) translation into toxi...
ORGANISM(S): Homo sapiens (Human) 
2025-03-07 | PXD034016 | Pride
Als Srsf1 C9orf72 
ProteomicsInteractome screening of C9orf72 dipeptide repeats reveals sequestration and functional impairment of VCP by polyGA
Repeat expansions in the C9orf72 gene are a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), two devastating neurodegenerative disorders. One of the proposed mechanisms of GGGGCC repeat expansion is their translation to produce unnatural dipeptide rep...
ORGANISM(S): Homo sapiens (Human) 
2022-05-19 | PXD024120 | Pride
Proximity labeeling Proteomics Amyotrophic lateral sclerosis Als Valosin-containing protein Vcp Bioid Neurodegeneration Dipeptide repeats 
ProteomicsHigh throughput screen of 100,000 small molecules in C9orf72 ALS neurons dataset3
Background. An intronic G4C2 repeat expansion in the C9orf72 gene is the major known cause for Amyotrophic Lateral Sclerosis. There is evidence forthree possible disease mechanisms: a pathological gain of function of nuclear repeat RNA foci, repeat associated noncanonical (RAN) translation into toxi...
ORGANISM(S): Homo sapiens (Human) 
2025-03-07 | PXD034093 | Pride
C9orf72 Spliceosome Als 
ProteomicsHigh throughput screen of 100,000 small molecules in C9orf72 ALS neurons dataset2
Background. An intronic G4C2 repeat expansion in the C9orf72 gene is the major known cause for Amyotrophic Lateral Sclerosis. There is evidence forthree possible disease mechanisms: a pathological gain of function of nuclear repeat RNA foci, repeat associated noncanonical (RAN) translation into toxi...
ORGANISM(S): Homo sapiens (Human) 
2025-03-07 | PXD034092 | Pride
C9orf72 Spliceosome Als 
ProteomicsInteractome of C9orf72 arginine-rich dipeptide proteins
A GGG GCC hexanucleotide repeat expansion within the C9orf72 gene is the most common genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia. Sense and antisense repeat-containing transcripts undergo repeat associated non-AUG-initiated translation to produce five dipeptide pr...
ORGANISM(S): Drosophila melanogaster (Fruit fly) 
2019-01-07 | PXD012099 | Pride
Ap-ms Brain Orbitrap Drosophila Lc-ms/ms 
ProteomicsTranslation deficits drive C9orf72 associated poly-GR/PR toxicity
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients with the C9orf72 mutation show predominantly cytoplasmic aggregates of poly-GR and poly-PR proteins that are acutely toxic in various model systems. To identify the molecular mediators of neurotoxicity of poly-GR/PR, we a...
ORGANISM(S): Homo sapiens (Human) Rattus norvegicus (Rat) 
2018-06-27 | PXD008691 | Pride
Ftld Proteomics Stress granules Als Ribosome Nucleolus Dpr proteins Interactome C9orf72 Translation 
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