BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

97 related articles for article (PubMed ID: 24387990)

  • 1. 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
    Am J Hum Genet; 2014 Jan; 94(1):105-12. PubMed ID: 24387990
    [No Abstract]   [Full Text] [Related]  

  • 2. PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.
    Wang K; Xu H; Zou R; Zeng G; Yuan Y; Zhu X; Zhao X; Li J; Zhang L
    BMC Biol; 2024 Jun; 22(1):134. PubMed ID: 38858683
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The role of phosphatidylcholine 34:1 in the occurrence, development and treatment of ulcerative colitis.
    Yu T; Zhou Z; Liu S; Li C; Zhang ZW; Zhang Y; Jin W; Liu K; Mao S; Zhu L; Xie L; Wang G; Liang Y
    Acta Pharm Sin B; 2023 Mar; 13(3):1231-1245. PubMed ID: 36970218
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    Ludwig-Peisker O; Ansel E; Schweizer D; Jagannathan V; Loechel R; Leeb T
    Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553621
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
    Poll SR; Martin R; Wohler E; Partan ES; Walek E; Salman S; Groepper D; Kratz L; Cernach M; Jesus-Garcia R; Haldeman-Englert C; Choi YJ; Morris CD; Cohen B; Hoover-Fong J; Valle D; Semenza GL; Sobreira NLM
    PLoS Genet; 2022 Dec; 18(12):e1010504. PubMed ID: 36480544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
    Klöckner C; Fernández-Murray JP; Tavasoli M; Sticht H; Stoltenburg-Didinger G; Scholle LM; Bakhtiari S; Kruer MC; Darvish H; Firouzabadi SG; Pagnozzi A; Shukla A; Girisha KM; Narayanan DL; Kaur P; Maroofian R; Zaki MS; Noureldeen MM; Merkenschlager A; Gburek-Augustat J; Cali E; Banu S; Nahar K; Efthymiou S; Houlden H; Jamra RA; Williams J; McMaster CR; Platzer K
    Brain; 2022 Jun; 145(6):1916-1923. PubMed ID: 35202461
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic diseases of the Kennedy pathways for membrane synthesis.
    Tavasoli M; Lahire S; Reid T; Brodovsky M; McMaster CR
    J Biol Chem; 2020 Dec; 295(51):17877-17886. PubMed ID: 33454021
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila.
    Li L; Ding Z; Pang TL; Zhang B; Li CH; Liang AM; Wang YR; Zhou Y; Fan YJ; Xu YZ
    Nat Commun; 2020 Nov; 11(1):5608. PubMed ID: 33154379
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial Partial Lipodystrophy (FPLD): Recent Insights.
    Bagias C; Xiarchou A; Bargiota A; Tigas S
    Diabetes Metab Syndr Obes; 2020; 13():1531-1544. PubMed ID: 32440182
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    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
    Autophagy; 2020 Jun; 16(6):1044-1060. PubMed ID: 31517566
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    J Biol Chem; 2019 Oct; 294(42):15531-15543. PubMed ID: 31488548
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    J Biol Chem; 2019 Oct; 294(42):15517-15530. PubMed ID: 31488547
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Accelerated phosphatidylcholine turnover in macrophages promotes adipose tissue inflammation in obesity.
    Petkevicius K; Virtue S; Bidault G; Jenkins B; Çubuk C; Morgantini C; Aouadi M; Dopazo J; Serlie MJ; Koulman A; Vidal-Puig A
    Elife; 2019 Aug; 8():. PubMed ID: 31418690
    [TBL] [Abstract][Full Text] [Related]  

  • 14. What lipodystrophies teach us about the metabolic syndrome.
    Mann JP; Savage DB
    J Clin Invest; 2019 Aug; 129(10):4009-4021. PubMed ID: 31380809
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
    Peter VG; Quinodoz M; Pinto-Basto J; Sousa SB; Di Gioia SA; Soares G; Ferraz Leal G; Silva ED; Pescini Gobert R; Miyake N; Matsumoto N; Engle EC; Unger S; Shapiro F; Superti-Furga A; Rivolta C; Campos-Xavier B
    Genet Med; 2019 Dec; 21(12):2734-2743. PubMed ID: 31263216
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
    Pekkinen M; Terhal PA; Botto LD; Henning P; Mäkitie RE; Roschger P; Jain A; Kol M; Kjellberg MA; Paschalis EP; van Gassen K; Murray M; Bayrak-Toydemir P; Magnusson MK; Jans J; Kausar M; Carey JC; Somerharju P; Lerner UH; Olkkonen VM; Klaushofer K; Holthuis JC; Mäkitie O
    JCI Insight; 2019 Apr; 4(7):. PubMed ID: 30779713
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Choline-related-inherited metabolic diseases-A mini review.
    Wortmann SB; Mayr JA
    J Inherit Metab Dis; 2019 Mar; 42(2):237-242. PubMed ID: 30681159
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    J Biol Chem; 2019 Feb; 294(5):1490-1501. PubMed ID: 30559292
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lipids and synaptic functions.
    Mochel F
    J Inherit Metab Dis; 2018 Nov; 41(6):1117-1122. PubMed ID: 29869164
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress.
    Haider A; Wei YC; Lim K; Barbosa AD; Liu CH; Weber U; Mlodzik M; Oras K; Collier S; Hussain MM; Dong L; Patel S; Alvarez-Guaita A; Saudek V; Jenkins BJ; Koulman A; Dymond MK; Hardie RC; Siniossoglou S; Savage DB
    Dev Cell; 2018 May; 45(4):481-495.e8. PubMed ID: 29754800
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.