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Unknown12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?
Not available
S-EPMC4058736 | biostudies-literature
ProteomicsComplexome profiling of brain mitochondrial membranes from Clpp-/- mouse
The autosomal recessive Perrault syndrome with juvenile ovarian failure, progressive sensorineural deafness, ataxia and leukoencephalopathy can be caused by loss of function mutations in CLPP. This gene encodes a peptidase that is conserved since bacteria and localizes to mitochondrial matrix in euk...
ORGANISM(S): Mus musculus (Mouse) 
2022-02-17 | PXD025478 | Pride
Protein complex assembly Quality control Neurodegeneration Lc-msms 
ProteomicsThe ataxia-telangiectasia disease protein ATM controls vesicular protein secretion via CHGA and microtubule dynamics via CRMP5
Ataxia telangiectasia mutated (ATM) is a protein that belongs to the family of phosphatidylinositol 3-kinase (PI3K)-like serine/threonine kinases. Initially identified as a nuclear protein essential for the DNA damage response (DDR) in mitotic cells, it serves as repair coordinator for DNA double-st...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2025-09-29 | PXD058394 | Pride
Taxol Sodium arsenite Coimmunoprecipitation Differential ultracentrifugation Label-free mass spectrometry Chloroquine Immobilized metal affinity chromatography Phosphoscan 
ProteomicsQuantitative global proteomics of yeast PBP1 deletion mutants and their stress responses reveals glucose metabolism, translation and stress granule changes
The yeast protein PBP1 has been implicated in diverse pathways such as polyadenylation, translation, RNA-DNA hybrid formation, stress granule homeostasis, mitochondrial dysfunction, and TORC1 sequestration. Intriguingly, its deletion mitigates the toxicity of human neurodegeneration factors, but the...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2016-12-23 | PXD003868 | Pride
Proteomics Pbp1 
ProteomicsConditional ATXN2L-nConditional ATXN2L-null in adult frontal cortex CamK2a+ neurons does not cause cell death, but restricts spontaneous mobility, and affects the alternative splicing pathway
Ataxin-2-like (ATXN2L) protein is required to survive embryonic development, as documented in mice with constitutive absence of ATXN2L Lsm, LsmAD and PAM2 domains, due to knockout (KO) of exons 5-8 with frameshift. Its less abundant paralog Ataxin-2 (ATXN2) has an extended N-terminus, where a polygl...
ORGANISM(S): Mus musculus (Mouse) 
2025-10-27 | PXD064497 | Pride
Mrpl14 Srsf11 Stress granules Poly(a)-binding protein Naa38 Rps3 Label-free mass spectrometry Nsun2 Open field locomotion Ribonucleoproteins 
ProteomicsLabel-free quantification of proteins in wild type and CLPP-null mouse embryonic fibroblasts
We studied consequences of genetic deletion of mitochondrial peptidase CLPP for global proteome profile in unstressed cells.
ORGANISM(S): Mus musculus (Mouse) 
2022-02-16 | PXD023677 | Pride
Mitochondrial accumulation of ribosomes and nucleoids Basal innate immunity elevation Vdac-dependent release Antiviral state Lc-msms Cgas-sting-irf7-ifnb-stat1 activation 
ProteomicsSpinal cord phosphoproteome of SCA2/ALS13 mouse model
Toxic polyglutamine (polyQ) expansions in ATXN2 trigger neurodegenerative processes, causing Spinocerebellar Ataxia type 2 (SCA2), and enhancing TDP 43-dependent pathology in Amyotrophic Lateral Sclerosis (ALS) / Fronto-Temporal Dementia (FTD). Primary disease events can be compensated transiently, ...
ORGANISM(S): Mus musculus (Mouse) 
2025-09-29 | PXD062823 | Pride
Fe-nta binding  imac  cortico-spinal motoneurons  cerebellar purkinje neurons  tyrosine receptor endocytosis  intrinsically disordered domains  liquid-liquid phase separation  proteasome  aggrephagy  microtubule-organizing center. 
ProteomicsProteome of WT and CLPP-null Podospora Anserina
Mutations in the gene for the mitochondrial matrix protease CLPP can cause human Perrault syndrome, which is characterized by male and female infertility, progressive sensorineural deafness, ataxia and leukoencephalopathy. This gene encodes a peptidase that is conserved since bacteria and localizes ...
ORGANISM(S): Podospora anserina 
2024-06-22 | PXD048640 | Pride
Clpp Posospora anserina Perrault syndrome 
TranscriptomicsParkinson Phenotype in Aged PINK1-Deficient Mice Is Accompanied by Progressive Mitochondrial Dysfunction in Absence of Neurodegeneration
Parkinson's disease (PD) is an adult-onset movement disorder of largely unknown etiology. We have previously shown that loss-of-function mutations of the mitochondrial protein kinase PINK1 (PTEN induced putative kinase 1) cause the recessive PARK6 variant of PD. Now we generated a PINK1 deficient mo...
ORGANISM(S): Mus musculus 
2014-11-04 | E-GEOD-60413 | biostudies-arrayexpress
TranscriptomicsPotentiation of neurotoxicity in double mutant mice with Pink1 ablation and A53T-SNCA overexpression
As the second most frequent neurodegenerative disorder of old age, ParkinsonM-bM-^@M-^Ys disease (PD) can result from autosomal dominant causes like increased alpha-synuclein (SNCA) dosage, or from autosomal recessive causes like PINK1 loss-of-function. Interactions between these triggers and their ...
ORGANISM(S): Mus musculus 
2014-11-04 | E-GEOD-60414 | biostudies-arrayexpress
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