ArticleNature communications2023
Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy.
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Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
6.3field-weighted citation impact, top 3% of its field
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Who cites it
18 citing papers in PubMed, 20 citations in OpenAlex.
- PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids.iScience · 2026Article
- Is the Loss of Previously Acquired Skills a Feature of PACS1-, PACS2- and WDR37-Related Syndromes? A Systematized Narrative Review.International journal of molecular sciences · 2026Review
- Endothelial cell expression of STINGThe Journal of investigative dermatology · 2026Article
- Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.Clinical genetics · 2026Article
- Transcriptomic Analysis Reveals PACS1 as a Potential Shared Candidate Biomarker for Apical Periodontitis and Osteoporosis.International journal of molecular sciences · 2026Article
- Palmitoylation calibrates mitochondrial transport of insulin across the endothelium in insulin resistance.bioRxiv : the preprint server for biology · 2026Article
- DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.European journal of human genetics : EJHG · 2026Article
- PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2.Communications biology · 2026Article
- PACS1 syndrome variant alters proteomic landscape of developing cortical organoids.bioRxiv : the preprint server for biology · 2025Article
- Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome.American journal of human genetics · 2025Article
- AI-Based Facial Phenotyping Supports a Shared Molecular Axis inInternational journal of molecular sciences · 2025Article
- Review
- Serendipitous and Systematic Chemoproteomic Discovery of MBLAC2, HINT1, and NME1-4 Inhibitors from Histone Deacetylase-Targeting Pharmacophores.ACS chemical biology · 2025Article
- PACS deficiency disrupts Golgi architecture and causes cytokinesis failures and seizure-like phenotype inOpen biology · 2025Article
- Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.medRxiv : the preprint server for health sciences · 2025Article
- GolpHCat (TMEM87A), a unique voltage-dependent cation channel in Golgi apparatus, contributes to Golgi-pH maintenance and hippocampus-dependent memory.Nature communications · 2024Article
- Endothelial cell expression of a STING gain-of-function mutation initiates pulmonary lymphocytic infiltration.Cell reports · 2024Article
- Inhibitory protein-protein interactions of the SIRT1 deacetylase are choreographed by post-translational modification.Protein science : a publication of the Protein Society · 2024Article
Corrections and comments
- Update of
Authors and funding
14 authors at 3 institutions in 3 countries.
Sabrina Villar-Pazos *Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA.
Laurel Thomas *Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA.
Yunhan YangDepartment of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA.ORCID http://orcid.org/0000-0001-6000-7210
Kun ChenDepartment of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA.
Jenea B LylesDepartment of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA.
Bradley J DeitchDepartment of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA.
Joseph OchabaIonis Pharmaceuticals, Carlsbad, CA, USA.
Karen LingIonis Pharmaceuticals, Carlsbad, CA, USA.ORCID http://orcid.org/0000-0002-5895-6684
Berit PowersIonis Pharmaceuticals, Carlsbad, CA, USA.
Sebastien GingrasDepartment of Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0003-2607-8642
Holly B KordasiewiczIonis Pharmaceuticals, Carlsbad, CA, USA.
Melanie J GrubishaDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Yanhua H HuangDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0003-1770-0196
Gary ThomasDepartment of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15219, USA. thomasg@pitt.edu.ORCID http://orcid.org/0000-0003-1976-7183
University of Pittsburgh · USIonis Pharmaceuticals (United States) · USInstitute of Molecular Biotechnology · AT
Funding
Molecular, Cellular and Behavioral Impact of the R203W PACS1 Syndrome MutationR01NS123649 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ANGELA M. GRONENBORN, Gary Thomas · 2022 to 2026
$3.3MAllosteric regulation of SIRT1 by a PACS-2 and DBC1 regulatory hubR01DK114855 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GRONENBORN, ANGELA M., THOMAS, GARY · 2017 to 2020
$2.4MRegulation of PPAR alpha by PACS-2 in response to nutrient stressR01DK112844 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI THOMAS, GARY · 2017 to 2019
$1.2MNIDDK NIH HHS R01 DK112844NIDDK NIH HHS R01 DK114855NINDS NIH HHS R01 NS123649
Abstract
PACS1 syndrome is a neurodevelopmental disorder (NDD) caused by a recurrent de novo missense mutation in PACS1 (p.Arg203Trp (PACS1
Indexed as
Histone DeacetylasesTubulinAcetylationAnimalsHistone Deacetylase 6Histone Deacetylase InhibitorsHumansMiceNeuronsProtein Processing, Post-TranslationalSyndromeVesicular Transport ProteinsHDAC6 protein, humanHistone Deacetylase 6Histone Deacetylase InhibitorsHistone DeacetylasesPACS1 protein, humanTubulinVesicular Transport Proteins
Identifiers
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.