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PACS1 Neurodevelopmental Disorder.
Lusk L, Smith S, Martin C, Taylor C, Chung W. Lusk L, et al. 2020 Jul 16. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2020 Jul 16. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 32672908 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. ...To date approximately 35 individuals with PACS1-NDD have been reported. DIAGNOSIS/TESTING: The diagnosis of PACS1-N …
CLINICAL CHARACTERISTICS: PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental …
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Moller-Hansen A, Hejla D, Lee HK, Lyles JB, Yang Y, Chen K, Li WL, Thomas G, Boerkoel CF. Moller-Hansen A, et al. Am J Med Genet A. 2023 Aug;191(8):2181-2187. doi: 10.1002/ajmg.a.63232. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141437 Free PMC article.
To date, PACS1-neurodevelopmental disorder (PACS1-NDD) has been associated with recurrent variation of Arg203 and is considered diagnostic of PACS1-NDD, an autosomal dominant syndromic intellectual disability disorder. ...We hypothesize that attenuating PA …
To date, PACS1-neurodevelopmental disorder (PACS1-NDD) has been associated with recurrent variation of Arg203 and is considere …
PACS1-Neurodevelopmental disorder: clinical features and trial readiness.
Van Nuland A, Reddy T, Quassem F, Vassalli JD, Berg AT. Van Nuland A, et al. Orphanet J Rare Dis. 2021 Sep 13;16(1):386. doi: 10.1186/s13023-021-02001-1. Orphanet J Rare Dis. 2021. PMID: 34517877 Free PMC article.
BACKGROUND: PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PACS1 gene. Little systematically collected data exist about the functional abilities and neurodevelopmental morbidities in children with …
BACKGROUND: PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PAC …
Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy.
Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles JB, Deitch BJ, Ochaba J, Ling K, Powers B, Gingras S, Kordasiewicz HB, Grubisha MJ, Huang YH, Thomas G. Villar-Pazos S, et al. Nat Commun. 2023 Oct 17;14(1):6547. doi: 10.1038/s41467-023-42176-8. Nat Commun. 2023. PMID: 37848409 Free PMC article.
PACS1 syndrome is a neurodevelopmental disorder (NDD) caused by a recurrent de novo missense mutation in PACS1 (p.Arg203Trp (PACS1(R203W))). The mechanism by which PACS1(R203W) causes PACS1 syndrome is unknown, and no curative treatment is avail …
PACS1 syndrome is a neurodevelopmental disorder (NDD) caused by a recurrent de novo missense mutation in PACS1 (p.Arg203Trp ( …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
According to large-scale interactome data, WDR37 interacts most strongly, by far, with PACS1 and PACS2. Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-r …
According to large-scale interactome data, WDR37 interacts most strongly, by far, with PACS1 and PACS2. Clinically, coloboma has been …
PACS1 is an HIV-1 cofactor that functions in Rev-mediated nuclear export of viral RNA.
Liu H, Hu PW, Budhiraja S, Misra A, Couturier J, Lloyd RE, Lewis DE, Kimata JT, Rice AP. Liu H, et al. Virology. 2020 Jan 15;540:88-96. doi: 10.1016/j.virol.2019.10.004. Epub 2019 Oct 19. Virology. 2020. PMID: 31759187 Free PMC article.
PACS1 appears specific to the Rev-CRM1 pathway and not other retroviral RNA export pathways. Over-expression of PACS1 increases nuclear export of unspliced viral RNA and significantly increases p24 expression in HIV-1-infected Jurkat CD4(+) T cells. ...
PACS1 appears specific to the Rev-CRM1 pathway and not other retroviral RNA export pathways. Over-expression of PACS1 increase …
Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases.
Nair-Gill E, Bonora M, Zhong X, Liu A, Miranda A, Stewart N, Ludwig S, Russell J, Gallagher T, Pinton P, Beutler B. Nair-Gill E, et al. EMBO J. 2021 May 3;40(9):e104888. doi: 10.15252/embj.2020104888. Epub 2021 Feb 25. EMBO J. 2021. PMID: 33630350 Free PMC article.
Through forward genetic screening in mice, we identified two members of a new complex, Pacs1 and Wdr37, which are required for normal ER Ca(2+) handling in lymphocytes. Deletion of Pacs1 or Wdr37 caused peripheral lymphopenia that was linked to blunted Ca(2+) releas …
Through forward genetic screening in mice, we identified two members of a new complex, Pacs1 and Wdr37, which are required for normal …
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A. Rylaarsdam L, et al. Nat Commun. 2024 Jan 27;15(1):827. doi: 10.1038/s41467-024-44989-7. Nat Commun. 2024. PMID: 38280846 Free PMC article.
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). ...Here we differentiated stem cells t …
PACS1 syndrome is a neurodevelopmental disorder characterized by intellectual disability and distinct craniofacial abnormalities resu …
RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice.
Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles JB, Deitch BJ, Ochaba J, Ling K, Powers B, Gingras S, Kordasiewicz HB, Grubisha MJ, Huang YH, Thomas G. Villar-Pazos S, et al. Res Sq [Preprint]. 2023 Jan 27:rs.3.rs-2440581. doi: 10.21203/rs.3.rs-2440581/v1. Res Sq. 2023. Update in: Nat Commun. 2023 Oct 17;14(1):6547. doi: 10.1038/s41467-023-42176-8. PMID: 36747781 Free PMC article. Updated. Preprint.
The processes by which PACS1(R203W) causes PACS1 syndrome are unknown, and there is no curative treatment. We show that PACS1(R203W) increases the interaction between PACS1 and the alpha-tubulin deacetylase HDAC6, elevating enzyme activity and appropri …
The processes by which PACS1(R203W) causes PACS1 syndrome are unknown, and there is no curative treatment. We show that PAC …
125 results