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ProteomicsSodium valproate is protective in a transgenic zebrafish model of Machado Joseph disease
The neurodegenerative disease Machado Joseph disease (MJD, also known as spinocerebellar ataxia-3) is a fatal disease that impairs control and co-ordination of movement. MJD is caused by expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, encoding a long polyglutamine (polyQ) reg...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2021-08-23 | PXD009612 | Pride
Ataxin-3 Label-free quantitative proteomics Machado joseph disease Polyq Zebrafish 
ProteomicsALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ
Recently, we identified missense mutations in CCNF that are causative of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). CCNF encodes for cyclin F, a substrate recognition component of an E3-ubiquitin ligase. Mutations in CCNF directly implicates disrupti...
ORGANISM(S): Homo sapiens (Human) 
2021-03-18 | PXD014163 | Pride
Bioid Ubiquitylation Proteomics Amyotrophic lateral sclerosis Frontotemporal dementia Paraspeckles Cyclin f Rbm14 Homeostasis 
ProteomicsTreatment with sodium butyrate has therapeutic benefits for Machado-Joseph disease through the induction of autophagy
Machado-Joseph disease (MJD) is a fatal neurodegenerative disease caused by expansion of the trinucleotide repeat region within the ATXN3/MJD gene. Mutation of ATXN3 causes formation of neurotoxic ataxin-3 protein aggregates, neurodegeneration and motor deficits. Here we investigated the therapeutic...
ORGANISM(S): Homo sapiens (Human) 
2024-01-24 | PXD024626 | Pride
Autophagy Trinucleotide repeat disease Label-free proteomics Spinocerebellar ataxia 3 Flow cytometry Sodium butyrate Microbiota Machado-joseph disease Polyq Neurodegeneration Zebrafish 
ProteomicsInter-regional proteomic profiling of the human brain using optimized protein extraction method from formalin-fixed tissue to identify signaling pathways
Proteomics offers vast potential to study the molecular regulation of the human brain. Formalin fixation is a common method for preserving human tissue, however, presents challenges for proteomic analysis. In this study we compared the efficiency of two different protein extraction buffers on three ...
ORGANISM(S): Homo sapiens (Human) 
2023-02-22 | PXD039808 | Pride
Formalin-fixed Proteomics Brain Mass spectrometry Pathways Protein Region Method Human Signaling 
ProteomicsPhosphorylation of Cyclin F at Serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(Cyclin F) complex.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder that is characterized by progressive weakness, paralysis and cachexia often resulting in patient death within 3-5 years of diagnosis. Recently, we identified mutations to the CCNF gene, which encodes the Cyclin F protein, in c...
ORGANISM(S): Homo sapiens (Human) 
2017-12-08 | PXD004531 | Pride
Als Phosphorylation Ubiquitylation E3 ligase 
ProteomicsIdentification of the Tau aggresome in progressive supranuclear palsy by in situ biotinylation by antibody recognition
Here, we used an unbiased proteomic approach, which combines antibody-mediated proximity-detection of co-aggregated proteins together with mass spectrometry. Biotinylation by antibody recognition (BAR) is a recently developed method, by which a primary antibody recognises the target of interest in f...
ORGANISM(S): Homo sapiens (Human) 
2023-02-27 | PXD028237 | Pride
Tauopathy  aggresome  biotinylation 
ProteomicsIdentification of the Tau aggresome in progressive supranuclear palsy by in situ biotinylation by antibody recognition reveals protein networks involved in energy metabolism, cytoskeletal dynamics and protein degradation systems.
Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease defined pathologically by the presence of insoluble phosphorylated-Tau (p-Tau) in neurons and glia. Identifying co-aggregating proteins within p-Tau inclusions reveals important insights into processes affected by the agg...
ORGANISM(S): Homo sapiens (Human) 
2023-02-27 | PXD028770 | Pride
Tauopathy  aggresome  biotinylation 
ProteomicsMutations to the ALS/FTD gene CCNF reveals elevated Lys48-linked ubiquitination by the SCF(cyclin F) complex
Approximately 10% of Amyotrophic lateral sclerosis (ALS) cases have a positive family history (familial ALS) and appear clinically indistinguishable from sporadic cases. ALS and frontotemporal dementia (FTD) are fatal neurodegenerative disorders that have common molecular and pathogenic characterist...
ORGANISM(S): Mus musculus (Mouse) 
2017-12-01 | PXD002011 | Pride
Motor neurone disease Als Ccnf Ubiquitin 
ProteomicsSTARS overexpression in the mdx mouse tibialis anterior muscle increases maximal isometric force production and regulates members of the keratin, NRF2 and OXPHOS pathways
Duchenne muscular dystrophy (DMD) is characterized by impaired cytoskeleton organization, cytosolic calcium handling oxidative stress and mitochondrial dysfunction. This results in progressive and fatal muscle damage, wasting and weakness. The Striated Muscle activator of Rho signalling (STARS) is ...
ORGANISM(S): Mus musculus (Mouse) 
2021-08-12 | PXD024631 | Pride
Stars Mdx mouse Muscular dystrophy Oxphos Adeno-associated virus Nrf2 Skeletal muscle Keratin 
ProteomicsUnbiased label-free quantitative proteomics of Amyotrophic lateral sclerosis (ALS) mutations in CCNF reveals activation of the apoptosis pathway
The past 10 years has seen a rapid acceleration in the discovery of new genetic causes of ALS, with more than 20 putative ALS-causing genes now cited. These genes express proteins that cover a diverse range of molecular functions, including free radical scavenging (cf SOD1), regulation of RNA homeo...
ORGANISM(S): Homo sapiens (Human) 
2021-03-31 | PXD021793 | Pride
Proteogenomics Ipscs Amytrophic lateral sclerosis Ccnf Apoptosis Neurodegeneration 
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