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PPP2R5D-Related Neurodevelopmental Disorder.
Mirzaa G, Foss K, Sudnawa K, Chung WK. Mirzaa G, et al. 2019 Jan 24 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2019 Jan 24 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 30676711 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: PPP2R5D-related neurodevelopmental disorder (PPP2R5D-NDD) is characterized by mild-to-profound neurodevelopmental delay, pronounced hypotonia, and macrocephaly. ...To date, more than 100 individuals with PPP2R5D-NDD have been reporte …
CLINICAL CHARACTERISTICS: PPP2R5D-related neurodevelopmental disorder (PPP2R5D-NDD) is characterized by mild-to-profound neuro …
PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?
Comisi F, Soddu C, Lai F, Marica M, Lorrai M, Mancuso G, Giglio S, Savasta S. Comisi F, et al. Pediatr Rep. 2024 Dec 16;16(4):1200-1206. doi: 10.3390/pediatric16040101. Pediatr Rep. 2024. PMID: 39728742 Free PMC article.
CASE PRESENTATION: We report the first PPP2R5D-related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas. Whole Exome Sequencing analysis confirmed the clinical suspicion, detecting the pres …
CASE PRESENTATION: We report the first PPP2R5D-related neurodevelopmental disorder case from Sardinia, a child with transient hypogly …
PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.
Biswas D, Cary W, Nolta JA. Biswas D, et al. Int J Mol Sci. 2020 Feb 14;21(4):1286. doi: 10.3390/ijms21041286. Int J Mol Sci. 2020. PMID: 32074998 Free PMC article. Review.
Protein Phosphatase 2 Regulatory Subunit B' Delta (PPP2R5D)-related intellectual disability (ID) and neurodevelopmental delay results from germline de novo mutations in the PPP2R5D gene. ...In this review, we discuss the current understanding of the clinical and gen …
Protein Phosphatase 2 Regulatory Subunit B' Delta (PPP2R5D)-related intellectual disability (ID) and neurodevelopmental delay results …
PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication.
Anwar MI, Li N, Zhou Q, Chen M, Hu C, Wu T, Chen H, Li YP, Zhou Y. Anwar MI, et al. Virol J. 2022 Jul 14;19(1):118. doi: 10.1186/s12985-022-01848-5. Virol J. 2022. PMID: 35836293 Free PMC article.
NS5B also colocalized with PPP2R5D in the endoplasmic reticulum. Knockdown and knockout of PPP2R5D decreased and abrogated HCV infection in Huh7.5 cells, respectively, while transient and stable expression of PPP2R5D in PPP2R5D-knockout cells restored …
NS5B also colocalized with PPP2R5D in the endoplasmic reticulum. Knockdown and knockout of PPP2R5D decreased and abrogated HCV …
PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.
Walker IM, Riboldi GM, Drummond P, Saade-Lemus S, Martin-Saavedra JS, Frucht S, Bardakjian TM, Gonzalez-Alegre P, Deik A. Walker IM, et al. Ann Neurol. 2021 Jan;89(1):194-195. doi: 10.1002/ana.25943. Epub 2020 Nov 5. Ann Neurol. 2021. PMID: 33098144 No abstract available.
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.
Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C. Hetzelt KLML, et al. Eur J Med Genet. 2021 Jan;64(1):104123. doi: 10.1016/j.ejmg.2020.104123. Epub 2020 Dec 15. Eur J Med Genet. 2021. PMID: 33338668
PPP2R5D-related neurodevelopmental disorder (NDD) is a rare autosomal-dominant disease with developmental delay and mild to severe intellectual disability. ...(Glu200Lys) variant in PPP2R5D. By trio exome sequencing we now identified the variant p.(Glu198Lys) in a 2 …
PPP2R5D-related neurodevelopmental disorder (NDD) is a rare autosomal-dominant disease with developmental delay and mild to severe in …
PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases.
Madaan P, Kaur A, Saini L, Paria P, Vyas S, Sharma AR, Sahu JK. Madaan P, et al. Neuropediatrics. 2022 Feb;53(1):20-25. doi: 10.1055/s-0041-1733984. Epub 2021 Aug 26. Neuropediatrics. 2022. PMID: 34448180
BACKGROUND: Protein phosphatase 2 regulatory subunit B' delta (PPP2R5D)-related neurodevelopmental disorder is caused by pathogenic variations in the PPP2R5D gene, product of which is involved in dephosphorylation. ...METHODS: We report a child with a developmental …
BACKGROUND: Protein phosphatase 2 regulatory subunit B' delta (PPP2R5D)-related neurodevelopmental disorder is caused by pathogenic v …
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown.
Young RE, Zuccaro MV, LeDuc CA, Germain ND, Kim TH, Sarmiere P, Chung WK. Young RE, et al. HGG Adv. 2025 Jul 10;6(3):100450. doi: 10.1016/j.xhgg.2025.100450. Epub 2025 May 8. HGG Adv. 2025. PMID: 40340253 Free PMC article.
This study investigated the impact of pathogenic PPP2R5D variants on neuronal development and evaluated allele-specific knockdown as a potential therapeutic strategy. ...These findings uncover molecular mechanisms underlying PPP2R5D-related NDDs and support allele-s …
This study investigated the impact of pathogenic PPP2R5D variants on neuronal development and evaluated allele-specific knockdown as …
Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.
Zreibe K, Kanner CH, Uher D, Beard G, Patterson M, Harris M, Doerger J, Calamia S, Chung WK, Montes J. Zreibe K, et al. Gait Posture. 2024 May;110:77-83. doi: 10.1016/j.gaitpost.2024.03.012. Epub 2024 Mar 24. Gait Posture. 2024. PMID: 38547676 Free PMC article.
BACKGROUND: Individuals with PPP2R5D-related neurodevelopmental disorder have an atypical gait pattern characterized by ataxia and incoordination. ...METHODS: Twenty-six individuals with PPP2R5D pathogenic genetic variants participated in this observational, single …
BACKGROUND: Individuals with PPP2R5D-related neurodevelopmental disorder have an atypical gait pattern characterized by ataxia and in …
98 results