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ProteomicsDopamine transporter and synaptic vesicle sorting defects underlie auxilin-associated Parkinson’s disease
Auxilin participates in the uncoating of clathrin-coated vesicles (CCVs), thereby facilitating synaptic vesicle (SV) regeneration at presynaptic sites. Auxilin (DNAJC6/PARK19) loss-of-function mutations cause early-onset Parkinson’s disease (PD). Here, we utilized auxilin-knockout (KO) mice to eluci...
ORGANISM(S): Mus musculus (Mouse) 
2023-02-16 | PXD040141 | Pride
Dorsal striatum Substantia nigra Endolysosomal system Dopamine Α-synuclein Clathrin coated vesicles Synaptic autophagy Clathrin mediated endocytosis Axonal deformity Lewy bodies L-dopa 
UnknownGenotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Not available
S-EPMC4539360 | biostudies-literature
UnknownDisturbed Glucose Metabolism in Rat Neurons Exposed to Cerebrospinal Fluid Obtained from Multiple Sclerosis Subjects.
Not available
S-EPMC5789332 | biostudies-literature
UnknownBiallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Not available
S-EPMC8055917 | biostudies-literature
UnknownGenetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.
Not available
S-EPMC11600610 | biostudies-literature
UnknownNovel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.
Not available
S-EPMC5447400 | biostudies-literature
TranscriptomicsComparison of gene expression profile between 58 days-old prognatous sea bass jaws and control ones
A sea bass oligo microarray platform was used to profile gene expression in mandibles of 58 days-old sea bass affected by prognathism, a skeletal malformation that strongly affects sea bass production. Two different conditions: i) protruding jaws, and ii) normal jaws were used for gene expression an...
ORGANISM(S): Dicentrarchus labrax 
2010-10-22 | E-GEOD-19001 | biostudies-arrayexpress
TranscriptomicsAnalysis of gene expression profiles on 38 days-old sea bass heads
A sea bass oligo microarray platform was used to profile gene expression in whole heads of 38 days-old sea bass affected by prognathism, a skeletal malformation that strongly affects sea bass production. Two different conditions: i) prognathous individuals, and ii) normal individuals were analyzed. ...
ORGANISM(S): Dicentrarchus labrax 
2010-10-22 | E-GEOD-19041 | biostudies-arrayexpress
GenomicsGenetic Associations in Idiopathic Talipes Equinovarus (Clubfoot) - GAIT

Isolated clubfoot or idiopathic talipes equinovarus (ITEV) is one of the five most common birth defects, affecting approximately 4,000 newborns each year in the US. While the orthopedic care of these children has improved, long-term problems persist and the health care costs are significant. Stud...

phs000314.v1.p1 | EGA
TranscriptomicsComparison of genomic, morphological, and behavioral responses among fathead minnow (Pimephales promelas ) and zebrafish (Danio rerio) to acute RDX exposure
Paper Abstract. Extrapolating toxicological sensitivity information across species can require the use of highly conservative safety factors as prescribed by ecological risk assessment protocols. The objective of our study was to use multipule factors to understand the dynamics of stress responses ...
ORGANISM(S): Danio rerio 
2011-02-08 | E-GEOD-27067 | biostudies-arrayexpress
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