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Journal Abstract Search

165 related items for PubMed ID: 17631826

  • 1. [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]

  • 2. Fat breakdown: a function for CGI-58 (ABHD5) provides a new piece of the puzzle.
    Yen CL, Farese RV.
    Cell Metab; 2006 May; 3(5):305-7. PubMed ID: 16679288
    [Abstract] [Full Text] [Related]

  • 3. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
    Yamaguchi T, Osumi T.
    Biochim Biophys Acta; 2009 Jun; 1791(6):519-23. PubMed ID: 19061969
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.
    Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R.
    Cell Metab; 2006 May; 3(5):309-19. PubMed ID: 16679289
    [Abstract] [Full Text] [Related]

  • 7. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.
    Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H.
    J Invest Dermatol; 2003 Nov; 121(5):1029-34. PubMed ID: 14708602
    [Abstract] [Full Text] [Related]

  • 8. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.
    Srinivasan R, Hadzić N, Fischer J, Knisely AS.
    J Pediatr; 2004 May; 144(5):662-5. PubMed ID: 15127008
    [Abstract] [Full Text] [Related]

  • 9. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
    Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF.
    Arch Dermatol; 2005 Jun; 141(6):798-800. PubMed ID: 15967942
    [No Abstract] [Full Text] [Related]

  • 10. CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
    Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J.
    Am J Med Genet A; 2004 Aug 30; 129A(2):214. PubMed ID: 15316960
    [No Abstract] [Full Text] [Related]

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  • 12. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
    Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R.
    J Biol Chem; 2008 Sep 05; 283(36):24525-33. PubMed ID: 18606822
    [Abstract] [Full Text] [Related]

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  • 14. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
    Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R.
    Nat Genet; 2007 Jan 05; 39(1):28-30. PubMed ID: 17187067
    [Abstract] [Full Text] [Related]

  • 15. Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
    Missaglia S, Coleman RA, Mordente A, Tavian D.
    Cells; 2019 Feb 21; 8(2):. PubMed ID: 30795549
    [Abstract] [Full Text] [Related]

  • 16. 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 21; 92(3):245-253. PubMed ID: 30527376
    [Abstract] [Full Text] [Related]

  • 17. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).
    Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM.
    J Invest Dermatol; 2006 Sep 21; 126(9):2032-8. PubMed ID: 16741516
    [Abstract] [Full Text] [Related]

  • 18. Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene.
    Solomon C, Bernier L, Germain L, Dufour R, Davignon J.
    Arch Dermatol; 2006 Mar 21; 142(3):402-3. PubMed ID: 16549731
    [No Abstract] [Full Text] [Related]

  • 19. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
    Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, González-Enseñat MA, Fischer J, Azon A.
    Br J Dermatol; 2005 Oct 21; 153(4):838-41. PubMed ID: 16181472
    [Abstract] [Full Text] [Related]

  • 20. Interactions of perilipin-5 (Plin5) with adipose triglyceride lipase.
    Granneman JG, Moore HP, Mottillo EP, Zhu Z, Zhou L.
    J Biol Chem; 2011 Feb 18; 286(7):5126-35. PubMed ID: 21148142
    [Abstract] [Full Text] [Related]

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