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Page 1
PI4KA-Related Disorder.
Baple EL, Salter C, Uhlig H, Wolf NI, Crosby AH. Baple EL, et al. 2022 Aug 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Aug 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 35951779 Free Books & Documents. Review.
Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria. DIAGNOSIS/TESTING: The diagnosis of PI4KA-related disorder is established in a proband with characteristic f …
Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or per …
PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases.
Barlow-Busch I, Shaw AL, Burke JE. Barlow-Busch I, et al. Curr Opin Cell Biol. 2023 Aug;83:102207. doi: 10.1016/j.ceb.2023.102207. Epub 2023 Jul 14. Curr Opin Cell Biol. 2023. PMID: 37453227 Review.
This review will present a summary of recent discoveries on the roles of two phosphoinositide kinases (PI4KA and PIKfyve), which have emerged as targets for therapeutic intervention. Phosphatidylinositol 4-kinase alpha (PI4KA) generates PI4P at the plasma membrane a …
This review will present a summary of recent discoveries on the roles of two phosphoinositide kinases (PI4KA and PIKfyve), which have …
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. …
Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluo …
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
Phosphatidylinositol 4-kinase IIIalpha (PI4KIIIalpha/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. ...Together, these data define PI4KA g …
Phosphatidylinositol 4-kinase IIIalpha (PI4KIIIalpha/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate …
Targeting PI4KA sensitizes refractory leukemia to chemotherapy by modulating the ERK/AMPK/OXPHOS axis.
Jiang X, Huang X, Zheng G, Jia G, Li Z, Ding X, Lei L, Yuan L, Xu S, Gao N. Jiang X, et al. Theranostics. 2022 Oct 3;12(16):6972-6988. doi: 10.7150/thno.76563. eCollection 2022. Theranostics. 2022. PMID: 36276647 Free PMC article.
Recent evidence has revealed that phosphatidylinositol 4 kinase-IIIalpha (PI4KA) plays a critical role in tumorigenesis. However, the molecular mechanisms of PI4KA-regulated chemoresistance and leukemogenesis remain largely unknown. ...We also identified cepharanthi …
Recent evidence has revealed that phosphatidylinositol 4 kinase-IIIalpha (PI4KA) plays a critical role in tumorigenesis. However, the …
Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease.
Suresh S, Burke JE. Suresh S, et al. Adv Biol Regul. 2023 Dec;90:100996. doi: 10.1016/j.jbior.2023.100996. Epub 2023 Nov 10. Adv Biol Regul. 2023. PMID: 37979461 Review.
In all eukaryotes PI4KA is recruited to the plasma membrane by the protein EFR3, which does not directly bind PI4KA, but instead binds to the TTC7/ypp1 regulatory partner. ...This review describes an in-depth analysis of the structure function of PI4KA and it …
In all eukaryotes PI4KA is recruited to the plasma membrane by the protein EFR3, which does not directly bind PI4KA, but inste …
Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity.
Adhikari H, Kattan WE, Kumar S, Zhou P, Hancock JF, Counter CM. Adhikari H, et al. Nat Commun. 2021 Sep 9;12(1):5248. doi: 10.1038/s41467-021-25523-5. Nat Commun. 2021. PMID: 34504076 Free PMC article.
Here we identify EFR3A, an adapter protein for the phosphatidylinositol kinase PI4KA, to preferentially bind oncogenic KRAS. Disrupting EFR3A or PI4KA reduces phosphatidylinositol-4-phosphate, phosphatidylserine, and KRAS levels at the plasma membrane, as well as on …
Here we identify EFR3A, an adapter protein for the phosphatidylinositol kinase PI4KA, to preferentially bind oncogenic KRAS. Disrupti …
Sevoflurane Suppresses Colon Cancer Cell Malignancy by Regulating circ-PI4KA.
Sun S, Wang P, Ren L, Wang H, Zhan Y, Shan S. Sun S, et al. Onco Targets Ther. 2021 May 20;14:3319-3333. doi: 10.2147/OTT.S295552. eCollection 2021. Onco Targets Ther. 2021. PMID: 34045869 Free PMC article.
SEV exposure significantly decreased the expression of circ-PI4KA and LASP1, but increased miR-331-3p expression. SEV inhibited cell proliferation, migration and invasion, and induced cell apoptosis by regulating circ-PI4KA. Furthermore, circ-PI4KA interacted …
SEV exposure significantly decreased the expression of circ-PI4KA and LASP1, but increased miR-331-3p expression. SEV inhibited cell …
A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.
Zhang K, Kang L, Zhang H, Bai L, Pang H, Liu Q, Zhang X, Chen D, Yu H, Lv Y, Gao M, Liu Y, Gai Z, Wang D, Li X. Zhang K, et al. Front Immunol. 2022 Oct 19;13:987666. doi: 10.3389/fimmu.2022.987666. eCollection 2022. Front Immunol. 2022. PMID: 36341355 Free PMC article.
Phosphatidylinositol-4-kinase alpha (PI4KIIIalpha), encoded by the PI4KA gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. PI4KA mutations can cause autosomal recess …
Phosphatidylinositol-4-kinase alpha (PI4KIIIalpha), encoded by the PI4KA gene, can synthesize phosphatidylinositol-4-phosphate (PI-4- …
Molecular mechanisms of PI4K regulation and their involvement in viral replication.
McPhail JA, Burke JE. McPhail JA, et al. Traffic. 2023 Mar;24(3):131-145. doi: 10.1111/tra.12841. Epub 2022 Jun 2. Traffic. 2023. PMID: 35579216 Free article. Review.
Viruses can manipulate this regulation, with the Type III phosphatidylinositol 4-kinases (PI4KA and PI4KB) being hijacked by many RNA viruses to mediate their intracellular replication through the formation of phosphatidylinositol 4-phosphate (PI4P)-enriched replication or …
Viruses can manipulate this regulation, with the Type III phosphatidylinositol 4-kinases (PI4KA and PI4KB) being hijacked by many RNA …
69 results