Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. | Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. Oyama N, Vaneynde P, Reynhout S, Pao EM, Timms A, Fan X, Foss K, Derua R, Janssens V, Chung W, Mirzaa GM. | 04/26/2023 |
A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree. | A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree. Liu R, Huang Y, Li C, Wang P, Wang Y, Zhang L. | 12/10/2022 |
PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication. | 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., Free PMC Article | 07/23/2022 |
Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population. | Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population. Ning P, Li K, Ren H, Yang H, Xu Y, Yang X. | 04/16/2022 |
PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases. | 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. | 04/16/2022 |
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. | Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Orteschi D, Nobile V, Pucci C, Musto E, Pane M, Mercuri EM, Neri G, Genuardi M, Chiurazzi P, Zollino M., Free PMC Article | 02/19/2022 |
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. | A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. Papke CM, Smolen KA, Swingle MR, Cressey L, Heng RA, Toporsian M, Deng L, Hagen J, Shen Y, Chung WK, Kettenbach AN, Honkanen RE., Free PMC Article | 08/28/2021 |
Reduction of protein phosphatase 2A (PP2A) complexity reveals cellular functions and dephosphorylation motifs of the PP2A/B'delta holoenzyme. | Reduction of protein phosphatase 2A (PP2A) complexity reveals cellular functions and dephosphorylation motifs of the PP2A/B'δ holoenzyme. Jong CJ, Merrill RA, Wilkerson EM, Herring LE, Graves LM, Strack S., Free PMC Article | 12/26/2020 |
Critical role of PP2A-B56 family protein degradation in HIV-1 Vif mediated G2 cell cycle arrest. | Critical role of PP2A-B56 family protein degradation in HIV-1 Vif mediated G2 cell cycle arrest. Nagata K, Shindo K, Matsui Y, Shirakawa K, Takaori-Kondo A. | 12/26/2020 |
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. | Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Kim CY, Wirth T, Hubsch C, Németh AH, Okur V, Anheim M, Drouot N, Tranchant C, Rudolf G, Chelly J, Tatton-Brown K, Blauwendraat C, Vonsattel JPG, Cortes E, Alcalay RN, Chung WK., Free PMC Article | 12/19/2020 |
a new holoenzyme with PPM1G-B56delta as integral components, in which the regulatory subunit provides accessibility to distinct substrates for the phosphatase by defining its cellular localization, is reported. | PPM1G forms a PPP-type phosphatase holoenzyme with B56δ that maintains adherens junction integrity. Kumar P, Tathe P, Chaudhary N, Maddika S., Free PMC Article | 05/16/2020 |
Mutations in PPP2R5D are genetic cause of intellectual disability. | De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK., Free PMC Article | 10/22/2016 |
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth | Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R, Childhood Overgrowth Collaboration, Rahman N., Free PMC Article | 05/14/2016 |
MiR-9 regulates GR signaling and steroid-resistant airway hyperresponsiveness by reducing protein phosphatase 2A activity. | MicroRNA-9 regulates steroid-resistant airway hyperresponsiveness by reducing protein phosphatase 2A activity. Li JJ, Tay HL, Maltby S, Xiang Y, Eyers F, Hatchwell L, Zhou H, Toop HD, Morris JC, Nair P, Mattes J, Foster PS, Yang M. | 10/24/2015 |
Mutant B56delta was A and C binding-deficient, while mutant Aalpha subunits bound B56delta well but were unable to bind C | B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V., Free PMC Article | 10/24/2015 |
PP2A-B56delta is the single most significant contributor, of the PP2A holoenzyme subunits, to BubR1 and Bub1 kinetochore localization. | PP2A-B56 opposes Mps1 phosphorylation of Knl1 and thereby promotes spindle assembly checkpoint silencing. Espert A, Uluocak P, Bastos RN, Mangat D, Graab P, Gruneberg U., Free PMC Article | 11/29/2014 |
Protein kinase A mediated activation of protein phosphatase 2A is enabled by PPP2R5D phosphorylation, which modulates the affinity of the protein phosphatase 2A holoenzyme to its physiological substrates. | Phosphorylation on the PPP2R5D B regulatory subunit modulates the biochemical properties of protein phosphatase 2A. Yu UY, Ahn JH. | 07/26/2010 |
these data indicate that the B subunits alpha and delta are essential for the interaction of PP2A with CaMKIV. | The Balpha and Bdelta regulatory subunits of PP2A are necessary for assembly of the CaMKIV.PP2A signaling complex. Reece KM, Mazalouskas MD, Wadzinski BE., Free PMC Article | 01/21/2010 |
PP2A:B56delta as a key upstream regulator of Cdk1 activity upon exit from mitosis | Control of mitotic exit by PP2A regulation of Cdc25C and Cdk1. Forester CM, Maddox J, Louis JV, Goris J, Virshup DM., Free PMC Article | 01/21/2010 |
Data show that the protein phosphatase 2A subunit B56delta specifically interacts with HAND1 and -2, but not other basic helix-loop-helix proteins. | PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation. Firulli BA, Howard MJ, McDaid JR, McIlreavey L, Dionne KM, Centonze VE, Cserjesi P, Virshup DM, Firulli AB. | 01/21/2010 |
Gonadotropin-releasing hormone (GnRH) affects the membrane protein phosphatase 2A-associated apoptosis and the enzyme activity in ovarian cancer cells. | Gonadotropin-releasing hormone retards doxorubicin-induced apoptosis and serine/threonine phosphatase inhibition in ovarian cancer cells. Sugiyama M, Imai A, Furui T, Tamaya T. | 01/21/2010 |
PP2A ABalphaC and ABdeltaC holoenzymes function as positive regulators of Raf1-MEK1/2-ERK1/2 signaling by targeting Raf1 | Positive regulation of Raf1-MEK1/2-ERK1/2 signaling by protein serine/threonine phosphatase 2A holoenzymes. Adams DG, Coffee RL Jr, Zhang H, Pelech S, Strack S, Wadzinski BE. | 01/21/2010 |