| Methylome and transcriptome profiling revealed epigenetic silencing of LPCAT1 and PCYT1A associated with lipidome alterations in polycystic ovary syndrome. | Methylome and transcriptome profiling revealed epigenetic silencing of LPCAT1 and PCYT1A associated with lipidome alterations in polycystic ovary syndrome.
Mao Z, Li T, Zhao H, Wang X, Kang Y, Kang Y. | 11/13/2021 |
| De novo phosphatidylcholine synthesis is required for autophagosome membrane formation and maintenance during autophagy. | De novo phosphatidylcholine synthesis is required for autophagosome membrane formation and maintenance during autophagy.
Andrejeva G, Gowan S, Lin G, Wong Te Fong AL, Shamsaei E, Parkes HG, Mui J, Raynaud FI, Asad Y, Vizcay-Barrena G, Nikitorowicz-Buniak J, Valenti M, Howell L, Fleck RA, Martin LA, Kirkin V, Leach MO, Chung YL., Free PMC Article | 05/15/2021 |
| PCYT1A suppresses proliferation and migration via inhibiting mTORC1 pathway in lung adenocarcinoma. | PCYT1A suppresses proliferation and migration via inhibiting mTORC1 pathway in lung adenocarcinoma.
Yu J, Wu C, Wu Q, Huang J, Fu W, Xie X, Li W, Tang W, Xu C, Jin G. | 02/13/2021 |
| Differential dephosphorylation of CTP:phosphocholine cytidylyltransferase upon translocation to nuclear membranes and lipid droplets. | Differential dephosphorylation of CTP:phosphocholine cytidylyltransferase upon translocation to nuclear membranes and lipid droplets.
Yue L, McPhee MJ, Gonzalez K, Charman M, Lee J, Thompson J, Winkler DFH, Cornell RB, Pelech S, Ridgway ND., Free PMC Article | 02/6/2021 |
| The membrane-adsorbed, folded allosteric linker of CCTA may partially cover the active site cleft and pull it close to the membrane surface. | Remodeling of the interdomain allosteric linker upon membrane binding of CCTα pulls its active site close to the membrane surface.
Knowles DG, Lee J, Taneva SG, Cornell RB., Free PMC Article | 06/27/2020 |
| CCTA activation by membrane binding is sensitive to mutations in the alphaE and J segments, especially within or proximal to the alphaE hinge. | Interdomain communication in the phosphatidylcholine regulatory enzyme, CCTα, relies on a modular αE helix.
Taneva SG, Lee J, Knowles DG, Tishyadhigama C, Chen H, Cornell RB., Free PMC Article | 06/27/2020 |
| Our study shows that choline intake in Polish pregnant women is inadequate and that polymorphisms of PEMT rs12325817 and PCYT1A rs7639752 are associated with betaine but not choline concentrations. | PEMT rs12325817 and PCYT1A rs7639752 polymorphisms are associated with betaine but not choline concentrations in pregnant women.
Chmurzynska A, Seremak-Mrozikiewicz A, Malinowska AM, Różycka A, Radziejewska A, Szwengiel A, Kurzawińska G, Barlik M, Jagodziński PP, Drews K. | 05/25/2019 |
| Mutations in PCYT1A gene is associated with impaired enzyme kinetics and folding resulting in lipodystrophy, spondylometaphyseal dysplasia with cone-rod dystrophy, and isolated retinal dystrophy | Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.
Cornell RB, Taneva SG, Dennis MK, Tse R, Dhillon RK, Lee J., Free PMC Article | 05/25/2019 |
| There is no correlation between single PCYT1A rs712012 and PCYT1A rs7639752 polymorphisms and the incidence of intrauterine fetal death. | Polymorphic variants of genes involved in choline pathway and the risk of intrauterine fetal death.
Drews K, Różycka A, Barlik M, Klejewski A, Kurzawińska G, Wolski H, Majchrzycki M, Gryszczyńska A, Kamiński A, Seremak-Mrozikiewicz A. | 08/4/2018 |
| PCYT1A mutations were identified in patients with isolated retinal dystrophy without any skeletal involvement from two Italian families. | Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S., Free PMC Article | 04/29/2017 |
| CCT contributes to phospholipid compositional homeostasis. [Review] | CTP:phosphocholine cytidylyltransferase: Function, regulation, and structure of an amphitropic enzyme required for membrane biogenesis.
Cornell RB, Ridgway ND. | 06/4/2016 |
| PCYT1A-generated phosphatidylcholine has a role in the normal function of white adipose tissue and insulin action | Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB., Free PMC Article | 09/13/2014 |
| Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy | Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR., Free PMC Article | 03/1/2014 |
| We report loss-of-function mutations in PCYT1A as the cause of spondylometaphyseal dysplasia with cone-rod dystrophy. | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM., Free PMC Article | 03/1/2014 |
| N-Methylaspartate induced nitric oxide synthase activation and nuclear factor-kB subunit p65 nuclear translocation in A549 cells were responsible for decreased CTP:phosphocholine cytidylyltransferase A expression | Nitric oxide-induced activation of NF-κB-mediated NMDA-induced CTP:phosphocholine cytidylyltransferase alpha expression inhibition in A549 cells.
Li L, Shen L, She H, Yue S, Feng D, Luo Z. | 02/26/2011 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | See all PubMed (2) articles | 09/20/2009 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population.
Enaw JO, Zhu H, Yang W, Lu W, Shaw GM, Lammer EJ, Finnell RH, Enaw JO, Zhu H, Yang W, Lu W, Shaw GM, Lammer EJ, Finnell RH., Free PMC Articles: PMC1770928, PMC1770928 | 03/13/2008 |
| Analyses showed genotype effects of PCYT1A genes on spina bifida risk, but did not show evidence of gene-nutrient. interactions. | CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population.
Enaw JO, Zhu H, Yang W, Lu W, Shaw GM, Lammer EJ, Finnell RH, Enaw JO, Zhu H, Yang W, Lu W, Shaw GM, Lammer EJ, Finnell RH., Free PMC Articles: PMC1770928, PMC1770928 | 01/21/2010 |