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ProteomicsNovel Kinesin Family 1A Variants Linked to Atypical Parkinsonism Elicit Altered Neuronal TDP-43 Interactions and Dendritic Atrophy
We used patient induced pluripotent stem cells (IPSC) derived neurons from a patient with two mutations in KIF1A to evaluate the quantitative changes to KIF1A protein interaction, relative to wild-type control IPSC-motor neurons, using an anti-KIF1A antibody during immunoprecipitation. Given the rel...
ORGANISM(S): Homo sapiens (Human) 
2025-08-26 | PXD067234 | Pride
Kif1a Ipsc motor neurons Tdp-43 
TranscriptomicsTranscriptome profile of C9ORF72 ALS fibroblast
The purpose of this experiment was to compare the differences in transcript levels between RNA samples collected from fibroblasts from healthy control patients, amyotrophic lateral sclerosis (ALS) patients carrying an expanded GGGGCC repeat mutation in the chromosome 9 open reading frame 72 gene and...
ORGANISM(S): Homo sapiens 
2013-10-29 | E-MTAB-1926 | biostudies-arrayexpress
TranscriptomicsTranscription profiling by array of post-mortem brain cortex from healthy control patients and amyotrophic lateral sclerosis patients that carry an expanded GGGGCC repeat mutation in the chromosome 9 open reading frame 72 (C9ORF72) gene
The purpose of this experiment was to compare differences in the transcript level between RNA samples collected from post-mortem motor cortex from healthy control patients and amyotrophic lateral sclerosis (ALS) patients that carry an expanded GGGGCC repeat mutation in the chromosome 9 open reading ...
ORGANISM(S): Homo sapiens 
2013-10-29 | E-MTAB-1925 | biostudies-arrayexpress
TranscriptomicsDifferences between C9ORF72 iPS neuronal and Control and SOD1D90A iPS neuronal transcriptomes
The purpose of this experiment was to compare differences in the transcript levels between RNA samples from induced pluripotent stem cells differentiated into neurons carrying a mutation in the SOD1 gene, an expanded GGGGCC repeat mutation in the chromosome 9 open reading frame 72 gene and those wit...
ORGANISM(S): Homo sapiens 
2013-10-29 | E-MTAB-1927 | biostudies-arrayexpress
GenomicsPR
Pharmacogenomic response to Statins samples (Genotypes/Phenotypes)
EGAD00010000282 | EGA
GenomicsWTCCC2 Pharmacogenomic Response to Statins study
A WTCCC2 project genome-wide study for pharmacogenomic response to statins (PR) in individuals from Scotland.
EGAS00000000121 | EGA
GenomicsWTCCC2_RM - samples
WTCCC2 Reading and Mathematics ability (RM) samples from UK using the Affymetrix 6.0 array
EGAD00010000602 | EGA
GenomicsWTCCC2 Reading and Mathematics (RM) samples
A WTCCC2 project genome-wide association study for reading and mathematics ability in 3665 12-year-old individuals from the UK, genotyped on the Affymetrix 6.0 array. Details of the WTCCC2 analysis can be found in Davis et al. [Nat. Commun. 2014 July;5:4204]
EGAS00001000886 | EGA
GenomicsATD
WTCCC1 project Autoimmune Thyroid Disease (ATD) samples
EGAD00000000011 | EGA
GenomicsBC
WTCCC1 project Breast cancer (BC) samples
EGAD00000000013 | EGA
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