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Items: 1 to 20 of 129

1.

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 15;21(24):5318-28. doi: 10.1093/hmg/dds388. Epub 2012 Sep 17.

2.

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 Jun-Jul;115(2-3):110-7. doi: 10.1016/j.ymgme.2015.05.001. Epub 2015 May 2.

3.

The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets.

Kobayashi K, Inoguchi T, Maeda Y, Nakashima N, Kuwano A, Eto E, Ueno N, Sasaki S, Sawada F, Fujii M, Matoba Y, Sumiyoshi S, Kawate H, Takayanagi R.

J Clin Endocrinol Metab. 2008 Jul;93(7):2877-84. doi: 10.1210/jc.2007-2247. Epub 2008 Apr 29.

PMID:
18445677
4.

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.

PMID:
17657808
5.

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. doi: 10.1002/mus.24477. Epub 2015 Feb 28.

PMID:
25287355
6.

Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy.

Natali A, Gastaldelli A, Camastra S, Baldi S, Quagliarini F, Minicocci I, Bruno C, Pennisi E, Arca M.

J Clin Endocrinol Metab. 2013 Sep;98(9):E1540-8. doi: 10.1210/jc.2013-1444. Epub 2013 Jul 3.

PMID:
23824421
8.

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

Kaneko K, Kuroda H, Izumi R, Tateyama M, Kato M, Sugimura K, Sakata Y, Ikeda Y, Hirano K, Aoki M.

Neuromuscul Disord. 2014 Jul;24(7):634-41. doi: 10.1016/j.nmd.2014.04.001. Epub 2014 Apr 21. Review.

PMID:
24836204
9.

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. doi: 10.1152/ajpendo.00099.2009. Epub 2009 Apr 28. Review.

10.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C.

Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9.

PMID:
23146629
11.

Cardiac oxidative stress in a mouse model of neutral lipid storage disease.

Schrammel A, Mussbacher M, Winkler S, Haemmerle G, Stessel H, Wölkart G, Zechner R, Mayer B.

Biochim Biophys Acta. 2013 Nov;1831(11):1600-8. doi: 10.1016/j.bbalip.2013.07.004. Epub 2013 Jul 15.

12.

Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.

Muggenthaler M, Petropoulou E, Omer S, Simpson MA, Sahak H, Rice A, Raju H, Conti FJ, Bridges LR, Anderson LJ, Sharma S, Behr ER, Jamshidi Y.

Int J Cardiol. 2016 May 1;210:41-4. doi: 10.1016/j.ijcard.2016.02.082. Epub 2016 Feb 13. No abstract available.

PMID:
26922712
13.

Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism.

Williams ML, Coleman RA, Placezk D, Grunfeld C.

Biochim Biophys Acta. 1991 Feb 22;1096(2):162-9.

PMID:
2001430
14.

Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.

Hirano K, Tanaka T, Ikeda Y, Yamaguchi S, Zaima N, Kobayashi K, Suzuki A, Sakata Y, Sakata Y, Kobayashi K, Toda T, Fukushima N, Ishibashi-Ueda H, Tavian D, Nagasaka H, Hui SP, Chiba H, Sawa Y, Hori M.

Biochem Biophys Res Commun. 2014 Jan 10;443(2):574-9. doi: 10.1016/j.bbrc.2013.12.003. Epub 2013 Dec 8.

PMID:
24332944
15.

Identification of a novel phosphorylation site in adipose triglyceride lipase as a regulator of lipid droplet localization.

Xie X, Langlais P, Zhang X, Heckmann BL, Saarinen AM, Mandarino LJ, Liu J.

Am J Physiol Endocrinol Metab. 2014 Jun 15;306(12):E1449-59. doi: 10.1152/ajpendo.00663.2013. Epub 2014 May 6.

16.

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. doi: 10.1038/ejhg.2012.256. Epub 2012 Dec 12. Erratum in: Eur J Hum Genet. 2013 Aug;21(8):892.

17.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5.

PMID:
21544567
18.

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;39(1):28-30. Epub 2006 Dec 24.

PMID:
17187067
19.

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.

20.

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 Jr, Herath K, Previs SF, Roddy TP, Pinto S, Zechner R, Ott M.

J Biol Chem. 2014 Dec 26;289(52):35770-80. doi: 10.1074/jbc.M114.587816. Epub 2014 Nov 7.

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