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References from PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids. Local targets link to admitted publications; unresolved targets remain external evidence.
High-Risk, High-Reward Genetics in ASD
10.1016/j.neuron.2020.01.007 · 2020 · External reference
Genetics and genomics of psychiatric disease
10.1126/science.aaa8954 · 2015 · External reference
The promise of organoids for unraveling the proteomic landscape of the developing human brain
10.1038/s41380-021-01354-0 · 2022 · External reference
Cerebral organoids model human brain development and microcephaly
10.1038/nature12517 · 2013 · External reference
Single-cell brain organoid screening identifies developmental defects in autism
10.1038/s41586-023-06473-y · 2023 · External reference
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder
10.1038/s41467-022-30968-3 · 2022 · External reference
ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum
10.1016/j.stem.2024.04.014 · 2024 · External reference
Autism genes converge on asynchronous development of shared neuron classes
10.1038/s41586-021-04358-6 · 2022 · External reference
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity
10.1038/s41467-024-44989-7 · 2024 · External reference
A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders
10.1016/j.stem.2025.10.006 · 2025 · External reference
ECE2 regulates neurogenesis and neuronal migration during human cortical development
10.15252/embr.201948204 · 2020 · External reference
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment
10.1016/j.celrep.2022.110846 · 2022 · External reference
Proteomic signatures of schizophrenia-sourced iPSC-derived neural cells and brain organoids are similar to patients' postmortem brains
10.1186/s13578-022-00928-x · 2022 · External reference
mRNAs, proteins and the emerging principles of gene expression control
10.1038/s41576-020-0258-4 · 2020 · External reference
Clinical delineation of the PACS1-related syndrome--Report on 19 patients
10.1002/ajmg.a.37476 · 2016 · External reference
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
10.1016/j.ajhg.2012.10.013 · 2012 · External reference
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature
10.1002/ajmg.a.61964 · 2021 · External reference
The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic
10.1093/emboj/cdg596 · 2003 · External reference
Caught in the act - protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease
10.1242/jcs.199463 · 2017 · External reference
PACS-1 mediates phosphorylation-dependent ciliary trafficking of the cyclic-nucleotide-gated channel in olfactory sensory neurons
10.1523/jneurosci.1590-09.2009 · 2009 · External reference
Regulation of endosome sorting by a specific PP2A isoform
10.1083/jcb.142.6.1399 · 1998 · External reference
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
10.1038/sj.emboj.7600885 · 2005 · External reference
Dynamin-1 co-associates with native mouse brain BKCa channels: proteomics analysis of synaptic protein complexes
10.1016/j.febslet.2009.12.061 · 2010 · External reference
AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1
10.1038/sj.embor.7400018 · 2003 · External reference
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation
10.1038/sj.emboj.7600566 · 2005 · External reference
DISC1 regulates the transport of the NUDEL/LIS1/14-3-3epsilon complex through kinesin-1
10.1523/jneurosci.3826-06.2006 · 2007 · External reference
PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic
10.1093/emboj/20.9.2191 · 2001 · External reference
Trans-Golgi network sorting
10.1007/pl00000922 · 2001 · External reference
PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization
10.1016/s0092-8674(00)81420-8 · 1998 · External reference
The multifunctional sorting protein PACS-2 regulates SIRT1-mediated deacetylation of p53 to modulate p21-dependent cell-cycle arrest
10.1016/j.celrep.2014.07.049 · 2014 · External reference
PACS1 is an HIV-1 cofactor that functions in Rev-mediated nuclear export of viral RNA
10.1016/j.virol.2019.10.004 · 2020 · External reference
The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability
10.1038/s41388-020-1167-x · 2020 · External reference
Dysregulation of hsa-miR-34a and hsa-miR-449a leads to overexpression of PACS-1 and loss of DNA damage response (DDR) in cervical cancer
10.1074/jbc.ra120.014048 · 2020 · External reference
Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy
10.1038/s41467-023-42176-8 · 2023 · External reference
PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes
10.1093/genetics/iyae118 · 2024 · External reference
In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development
10.1016/j.tig.2021.10.010 · 2022 · External reference
PACS1-Neurodevelopmental disorder: clinical features and trial readiness
10.1186/s13023-021-02001-1 · 2021 · External reference
Defining Protein Pattern Differences Among Molecular Subtypes of Diffuse Gliomas Using Mass Spectrometry
10.1074/mcp.ra119.001521 · 2019 · External reference
PACS-1 contains distinct motifs for nuclear-cytoplasmic transport and interacts with the RNA-binding protein PTBP1 in the nucleus and cytosol
10.1002/1873-3468.14243 · 2022 · External reference
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
10.1007/s00439-021-02384-y · 2021 · External reference
The cyclin-dependent kinase inhibitor p21 is regulated by RNA-binding protein PCBP4 via mRNA stability
10.1093/nar/gkq778 · 2011 · External reference
Nestin-expressing progenitor cells: function, identity and therapeutic implications
10.1007/s00018-018-2794-z · 2018 · External reference
STEM: a tool for the analysis of short time series gene expression data
10.1186/1471-2105-7-191 · 2006 · External reference
The chromatin-targeting protein Brd2 is required for neural tube closure and embryogenesis
10.1016/j.bbagrm.2009.03.005 · 2009 · External reference
Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterning
10.1002/cne.20112 · 2004 · External reference
Multi-omics Analysis of Energy Metabolism Pathways Across Major Psychiatric Disorders
10.1007/s12035-025-05133-8 · 2025 · External reference
Association of PRPS1 Mutations with Disease Phenotypes
10.1155/2015/127013 · 2015 · External reference
Oxidative Stress in Autism Spectrum Disorder
10.1007/s12035-019-01742-2 · 2020 · External reference
Dendrite development regulated by CREST, a calcium-regulated transcriptional activator
10.1126/science.1089845 · 2004 · External reference
Vimentin as a potential target for diverse nervous system diseases
10.4103/1673-5374.355744 · 2023 · External reference
Carbonic anhydrases and brain pH in the control of neuronal excitability
10.1007/978-94-007-7359-2_14 · 2014 · External reference
Akt and 14-3-3 control a PACS-2 homeostatic switch that integrates membrane traffic with TRAIL-induced apoptosis
10.1016/j.molcel.2009.04.011 · 2009 · External reference
Histone deacetylase 1 phosphorylation promotes enzymatic activity and complex formation
10.1074/jbc.m105590200 · 2001 · External reference
Doublecortin association with actin filaments is regulated by neurabin II
10.1074/jbc.m405525200 · 2005 · External reference
The synapsins: key actors of synapse function and plasticity
10.1016/j.pneurobio.2010.04.006 · 2010 · External reference
Adaptor protein complexes as the key regulators of protein sorting in the post-Golgi network
10.1247/csf.28.419 · 2003 · External reference
A noncanonical role for dynamin-1 in regulating early stages of clathrin-mediated endocytosis in non-neuronal cells
10.1371/journal.pbio.2005377 · 2018 · External reference
Neurofibrillary tangle-associated collapsin response mediator protein-2 (CRMP-2) is highly phosphorylated on Thr-509, Ser-518, and Ser-522
10.1021/bi992323h · 2000 · External reference
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
10.1016/j.nbd.2020.105236 · 2021 · External reference
LIN28A is a suppressor of ER-associated translation in embryonic stem cells
10.1016/j.cell.2012.10.019 · 2012 · External reference
Somatodendritic Expression of JAM2 Inhibits Oligodendrocyte Myelination
10.1016/j.neuron.2016.07.021 · 2016 · External reference
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
10.3390/genes12050738 · 2021 · External reference
What are neurodevelopmental disorders?
10.1097/wco.0000000000000710 · 2019 · External reference
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
10.1038/nature10945 · 2012 · External reference
The conundrums of understanding genetic risks for autism spectrum disorders
10.1038/nn.2924 · 2011 · External reference
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
10.1016/j.ajhg.2018.09.002 · 2018 · External reference
PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids
10.1038/s41386-020-0763-3 · 2021 · External reference
Human Models Are Needed for Studying Human Neurodevelopmental Disorders
10.1016/j.ajhg.2018.10.009 · 2018 · External reference
Human Cerebral Organoids and Fetal Brain Tissue Share Proteomic Similarities
10.3389/fcell.2019.00303 · 2019 · External reference
Unresolved reference
External reference
limma powers differential expression analyses for RNA-sequencing and microarray studies
10.1093/nar/gkv007 · 2015 · External reference
Dictionary learning for integrative, multimodal and scalable single-cell analysis
10.1038/s41587-023-01767-y · 2024 · External reference
GeneOverlap: Test and visualize gene overlaps
2013 · External reference
UpSetR: An R Package for the Visualization of Intersecting Sets and their Properties
10.1093/bioinformatics/btx364 · 2017 · External reference
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
10.1186/s13059-014-0550-8 · 2014 · External reference
Metascape provides a biologist-oriented resource for the analysis of systems-level datasets
10.1038/s41467-019-09234-6 · 2019 · External reference
Cytoscape: a software environment for integrated models of biomolecular interaction networks
10.1101/gr.1239303 · 2003 · External reference
Unresolved reference
2020 · External reference
Unresolved reference
2016 · External reference
The single-cell transcriptional landscape of mammalian organogenesis
10.1038/s41586-019-0969-x · 2019 · External reference
Generation and assembly of human brain region-specific three-dimensional cultures
10.1038/s41596-018-0032-7 · 2018 · External reference
Dynamic proteomic and phosphoproteomic atlas of corticostriatal axons in neurodevelopment
10.7554/elife.78847 · 2022 · External reference
Proteomics and phosphoproteomics datasets of a muscle-specific STIM1 loss-of-function mouse model
10.1016/j.dib.2022.108051 · 2022 · External reference
rrvgo: a Bioconductor package for interpreting lists of Gene Ontology terms
2023 · External reference
Gene ontology: tool for the unification of biology. The Gene Ontology Consortium
10.1038/75556 · 2000 · External reference
The Gene Ontology knowledgebase in 2023
2023 · External reference
The DisGeNET knowledge platform for disease genomics: 2019 update
2020 · External reference
SFARI Gene: an evolving database for the autism research community
10.1242/dmm.005439 · 2010 · External reference
OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders
10.1093/nar/gku1205 · 2015 · External reference
Extended Multiplexing of Tandem Mass Tags (TMT) Labeling Reveals Age and High Fat Diet Specific Proteome Changes in Mouse Epididymal Adipose Tissue
10.1074/mcp.m116.065524 · 2017 · External reference
