BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 30795549)

  • 1. Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
    Missaglia S; Coleman RA; Mordente A; Tavian D
    Cells; 2019 Feb; 8(2):. PubMed ID: 30795549
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
    Schweiger M; Lass A; Zimmermann R; Eichmann TO; Zechner R
    Am J Physiol Endocrinol Metab; 2009 Aug; 297(2):E289-96. PubMed ID: 19401457
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.
    Brown AL; Mark Brown J
    Biochim Biophys Acta Mol Cell Biol Lipids; 2017 Oct; 1862(10 Pt B):1233-1241. PubMed ID: 28827091
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly.
    Vieyres G; Reichert I; Carpentier A; Vondran FWR; Pietschmann T
    PLoS Pathog; 2020 Jun; 16(6):e1008554. PubMed ID: 32542055
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
    Missaglia S; Tasca E; Angelini C; Moro L; Tavian D
    Mol Genet Metab; 2015; 115(2-3):110-7. PubMed ID: 25956450
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.
    Ohno Y; Nara A; Nakamichi S; Kihara A
    J Dermatol Sci; 2018 Dec; 92(3):245-253. PubMed ID: 30527376
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Symptomatic lipid storage in carriers for the PNPLA2 gene.
    Janssen MC; van Engelen B; Kapusta L; Lammens M; van Dijk M; Fischer J; van der Graaf M; Wevers RA; Fahrleitner M; Zimmermann R; Morava E
    Eur J Hum Genet; 2013 Aug; 21(8):807-15. PubMed ID: 23232698
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
    Tavian D; Missaglia S; Castagnetta M; Degiorgio D; Pennisi EM; Coleman RA; Dell'Era P; Mora C; Angelini C; Coviello DA
    Mol Genet Metab; 2017 May; 121(1):28-34. PubMed ID: 28391974
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].
    Fischer J; Negre-Salvayre A; Salvayre R
    Med Sci (Paris); 2007; 23(6-7):575-8. PubMed ID: 17631826
    [No Abstract]   [Full Text] [Related]  

  • 10. The hepatitis C virus core protein inhibits adipose triglyceride lipase (ATGL)-mediated lipid mobilization and enhances the ATGL interaction with comparative gene identification 58 (CGI-58) and lipid droplets.
    Camus G; Schweiger M; Herker E; Harris C; Kondratowicz AS; Tsou CL; Farese RV; Herath K; Previs SF; Roddy TP; Pinto S; Zechner R; Ott M
    J Biol Chem; 2014 Dec; 289(52):35770-80. PubMed ID: 25381252
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
    Tavian D; Missaglia S; Redaelli C; Pennisi EM; Invernici G; Wessalowski R; Maiwald R; Arca M; Coleman RA
    Hum Mol Genet; 2012 Dec; 21(24):5318-28. PubMed ID: 22990388
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator.
    Tseng YY; Sanders MA; Zhang H; Zhou L; Chou CY; Granneman JG
    Sci Rep; 2022 Feb; 12(1):2565. PubMed ID: 35173175
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
    Yu L; Li Y; Grisé A; Wang H
    Adv Exp Med Biol; 2020; 1276():197-222. PubMed ID: 32705602
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Positive regulation of prostate cancer cell growth by lipid droplet forming and processing enzymes DGAT1 and ABHD5.
    Mitra R; Le TT; Gorjala P; Goodman OB
    BMC Cancer; 2017 Sep; 17(1):631. PubMed ID: 28877685
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A myopathy with unusual features caused by PNPLA2 gene mutations.
    Pennisi EM; Missaglia S; Dimauro S; Bernardi C; Akman HO; Tavian D
    Muscle Nerve; 2015 Apr; 51(4):609-13. PubMed ID: 25287355
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
    Missaglia S; Maggi L; Mora M; Gibertini S; Blasevich F; Agostoni P; Moro L; Cassandrini D; Santorelli FM; Gerevini S; Tavian D
    Neuromuscul Disord; 2017 May; 27(5):481-486. PubMed ID: 28258942
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts.
    Igal RA; Coleman RA
    J Biol Chem; 1996 Jul; 271(28):16644-51. PubMed ID: 8663220
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular Basis of ABHD5 Lipolysis Activation.
    Sanders MA; Zhang H; Mladenovic L; Tseng YY; Granneman JG
    Sci Rep; 2017 Feb; 7():42589. PubMed ID: 28211464
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
    Akiyama M; Sakai K; Ogawa M; McMillan JR; Sawamura D; Shimizu H
    Muscle Nerve; 2007 Dec; 36(6):856-9. PubMed ID: 17657808
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure of a CGI-58 motif provides the molecular basis of lipid droplet anchoring.
    Boeszoermenyi A; Nagy HM; Arthanari H; Pillip CJ; Lindermuth H; Luna RE; Wagner G; Zechner R; Zangger K; Oberer M
    J Biol Chem; 2015 Oct; 290(44):26361-72. PubMed ID: 26350461
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.