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Unknown12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?
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S-EPMC4058736 | biostudies-literature
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
TranscriptomicsAlpha-synuclein deficiency affects brain Foxp1 expression and ultrasonic vocalization
Alpha-synuclein is an abundant protein implicated in synaptic function and plasticity, but the molecular mechanism of its action is not understood. Missense mutations and gene duplication/triplication events result in Parkinson's disease, a neurodegenerative disorder of old age with impaired movemen...
ORGANISM(S): Mus musculus 
2010-07-21 | E-GEOD-19534 | biostudies-arrayexpress
TranscriptomicsA53T-ë±-synuclein overexpression mouse model signaling and striatal synaptic plasticity
Parkinson’s disease (PD), the second most frequent neurodegenerative disorder at old age, can be caused by elevated expression, or the A53T mutation, of the presynaptic protein alpha-synuclein (SNCA). PD is characterized pathologically by the preferential vulnerability of the dopaminergic nigrostr...
ORGANISM(S): Mus musculus 
2010-05-27 | E-GEOD-20547 | biostudies-arrayexpress
ProteomicsAtxn2-Knock-Out mice show branched chain amino acids and fatty acids pathway alterations
Human Ataxin-2 (ATXN2) gene locus variants have been associated with obesity, diabetes mellitus type 1 and hypertension in genome-wide association studies, while mouse studies showed the knock-out of Atxn2 to lead to obesity, insulin resistance and dyslipidemia. Intriguingly, the deficiency of ATXN2...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2020-02-07 | MSV000084933 | MassIVE
TranscriptomicsExpression data from mitochondrial protease ClpP knock-out mice.
The peptidase ClpP is conserved from bacteria to human. In the mitochondrial matrix, it multimerizes and forms a macromolecular proteasome-like cylinder. Because of its known relevance for the mitochondrial unfolded protein response during cell stress, we characterized two ClpP knock-out mouse found...
ORGANISM(S): Mus musculus 
2013-07-17 | E-GEOD-40207 | biostudies-arrayexpress
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