Literature DB >> 17495960

A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

Zied Ben Selma, Sebnem Yilmaz, Pierre Olivier Schischmanoff, Astrid Blom, Candan Ozogul, Liliane Laroche, Frédéric Caux.   

Abstract

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Year:  2007        PMID： 17495960     DOI： 10.1038/sj.jid.5700860

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  9 in total

Review 1.  Mammalian triacylglycerol metabolism: synthesis, lipolysis, and signaling.

Authors:  Rosalind A Coleman; Douglas G Mashek
Journal:  Chem Rev       Date:  2011-06-01       Impact factor: 60.622

Review 2.  CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

Authors:  Liqing Yu; Yi Li; Alison Grisé; Huan Wang
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

Review 3.  The G0/G1 switch gene 2 (G0S2): regulating metabolism and beyond.

Authors:  Bradlee L Heckmann; Xiaodong Zhang; Xitao Xie; Jun Liu
Journal:  Biochim Biophys Acta       Date:  2012-09-29

Review 4.  Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Authors:  Peter M Elias; Mary L Williams; Walter M Holleran; Yan J Jiang; Matthias Schmuth
Journal:  J Lipid Res       Date:  2008-02-02       Impact factor: 5.922

5.  Neuronal lipolysis participates in PUFA-mediated neural function and neurodegeneration.

Authors:  Leilei Yang; Jingjing Liang; Sin Man Lam; Ahmet Yavuz; Guanghou Shui; Mei Ding; Xun Huang
Journal:  EMBO Rep       Date:  2020-10-09       Impact factor: 8.807

6.  Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease.

Authors:  Franz Pw Radner; Susanne Grond; Guenter Haemmerle; Achim Lass; Rudolf Zechner
Journal:  Dermatoendocrinol       Date:  2011-04-01

Review 7.  Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Authors:  Natasha Caminsky; Eliseos J Mucaki; Peter K Rogan
Journal:  F1000Res       Date:  2014-11-18

8.  Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator.

Authors:  Yan Yuan Tseng; Matthew A Sanders; Huamei Zhang; Li Zhou; Chia-Yi Chou; James G Granneman
Journal:  Sci Rep       Date:  2022-02-16       Impact factor: 4.379

9.  The patatin-like lipase family in Gallus gallus.

Authors:  Jani Saarela; Gerlinde Jung; Marcela Hermann; Johannes Nimpf; Wolfgang J Schneider
Journal:  BMC Genomics       Date:  2008-06-12       Impact factor: 3.969
  9 in total

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