Literature DB >> 20520629

Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.

Yoshikazu Uchida, Yunhi Cho, Sam Moradian, Jungmin Kim, Kimiko Nakajima, Debra Crumrine, Kyungho Park, Mayumi Ujihara, Masashi Akiyama, Hiroshi Shimizu, Walter M Holleran, Shigetoshi Sano, Peter M Elias.   

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Year:  2010        PMID： 20520629     DOI： 10.1038/jid.2010.145

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


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  24 in total

Review 1.  Recognition and diagnosis of neuro-ichthyotic syndromes.

Authors:  William B Rizzo; Sabrina Malone Jenkens; Philip Boucher
Journal:  Semin Neurol       Date:  2012-03-15       Impact factor: 3.420

2.  Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Authors:  G K Menon; E Orsó; Charalampos Aslanidis; D Crumrine; G Schmitz; Peter M Elias
Journal:  Arch Dermatol Res       Date:  2014-06-12       Impact factor: 3.017

3.  Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

Authors:  Peter M Elias; Mary L Williams; Kenneth R Feingold
Journal:  Clin Dermatol       Date:  2012 May-Jun       Impact factor: 3.541

Review 4.  Formation and functions of the corneocyte lipid envelope (CLE).

Authors:  Peter M Elias; Robert Gruber; Debra Crumrine; Gopinathan Menon; Mary L Williams; Joan S Wakefield; Walter M Holleran; Yoshikazu Uchida
Journal:  Biochim Biophys Acta       Date:  2013-09-27

Review 5.  Comparative gene identification-58/α/β hydrolase domain 5: more than just an adipose triglyceride lipase activator?

Authors:  Kathrin A Zierler; Rudolf Zechner; Guenter Haemmerle
Journal:  Curr Opin Lipidol       Date:  2014-04       Impact factor: 4.776

Review 6.  Pathogenesis-based therapies in ichthyoses.

Authors:  Joey E Lai-Cheong; Peter M Elias; Amy S Paller
Journal:  Dermatol Ther       Date:  2013 Jan-Feb       Impact factor: 2.851

7.  Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.

Authors:  Elizabeth A Mauldin; Debra Crumrine; Margret L Casal; Sekyoo Jeong; Lukáš Opálka; Katerina Vavrova; Yoshikazu Uchida; Kyungho Park; Brittany Craiglow; Keith A Choate; Kyong-Oh Shin; Yong-Moon Lee; Gary L Grove; Joan S Wakefield; Denis Khnykin; Peter M Elias
Journal:  Am J Pathol       Date:  2018-03-13       Impact factor: 4.307

Review 8.  Biochemistry and pathophysiology of intravascular and intracellular lipolysis.

Authors:  Stephen G Young; Rudolf Zechner
Journal:  Genes Dev       Date:  2013-03-01       Impact factor: 11.361

Review 9.  Recent insights into the structure and function of comparative gene identification-58.

Authors:  Monika Oberer; Andras Boeszoermenyi; Harald M Nagy; Rudolf Zechner
Journal:  Curr Opin Lipidol       Date:  2011-06       Impact factor: 4.776

10.  PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.

Authors:  Susanne Grond; Thomas O Eichmann; Sandrine Dubrac; Dagmar Kolb; Matthias Schmuth; Judith Fischer; Debra Crumrine; Peter M Elias; Guenter Haemmerle; Rudolf Zechner; Achim Lass; Franz P W Radner
Journal:  J Invest Dermatol       Date:  2016-10-14       Impact factor: 8.551
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