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ProteomicsProteomic screen of PACS1 interactors in HCT116 cells
PACS1 syndrome is a neurodevelopmental disorder caused by a recurrent heterozygous missense mutation in PACS1 (p.R203W). We previously showed that PACS1R203W aberrantly potentiates HDAC6 activity, leading to Golgi fragmentation and neuronal deficits through an unresolved mechanism. To elucidate how ...
ORGANISM(S): Homo sapiens (Human) 
2026-04-06 | PXD074970 | Pride
Pacs1 Pacs1 syndrome 
GenomicsRNAseq-PACS1-humanFibroblast
RNAseq-PACS1-humanFibroblast
PRJEB91660 | ENA
UnknowniPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Not available
S-EPMC10821916 | biostudies-literature
UnknownNeural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy.
Not available
S-EPMC10582149 | biostudies-literature
TranscriptomicsiPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity
PACS1 syndrome is a neurodevelopmental disorder characterized by intellectual disability and distinct craniofacial abnormalities resulting from a de novo p.R203W variant in phosphofurin acidic cluster sorting protein 1 (PACS1). PACS1 is known to play roles in the endosomal pathway and nucleus, but h...
ORGANISM(S): Homo sapiens 
2023-12-22 | GSE250386 | GEO
UnknownPACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes.
Not available
S-EPMC11457933 | biostudies-literature
GenomicsiPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity
PRJNA1053791 | ENA
UnknownA Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum.
Not available
S-EPMC8346485 | biostudies-literature
UnknownPACS1 syndrome variant alters proteomic landscape of developing cortical organoids.
Not available
S-EPMC12767366 | biostudies-literature
UnknownRNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice.
Not available
S-EPMC9901029 | biostudies-literature
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