Literature DB >> 15610535

Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome.

Akihiko Shibaki, Masashi Akiyama, Hiroshi Shimizu.   

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Year:  2004        PMID： 15610535     DOI： 10.1111/j.0022-202X.2004.23505.x

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


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  11 in total

Review 1.  Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Authors:  William B Rizzo
Journal:  Mol Genet Metab       Date:  2006-09-22       Impact factor: 4.797

2.  Texture analysis of the epidermis based on fast Fourier transformation in Sjögren-Larsson syndrome.

Authors:  Mariam P Auada; Randall L Adam; Neucimar J Leite; Maria B Puzzi; Maria L Cintra; William B Rizzo; Konradin Metze
Journal:  Anal Quant Cytol Histol       Date:  2006-08       Impact factor: 0.302

3.  Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Authors:  William B Rizzo
Journal:  Expert Opin Orphan Drugs       Date:  2016-03-10       Impact factor: 0.694

4.  Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.

Authors:  William B Rizzo; Debra A Craft; Tara Somer; Gael Carney; Juliana Trafrova; Marcia Simon
Journal:  J Lipid Res       Date:  2007-10-30       Impact factor: 5.922

Review 5.  Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.

Authors:  William B Rizzo
Journal:  Biochim Biophys Acta       Date:  2013-09-12

Review 6.  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

7.  The role of fatty aldehyde dehydrogenase in epidermal structure and function.

Authors:  William B Rizzo
Journal:  Dermatoendocrinol       Date:  2011-04-01

8.  A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Authors:  Markus A Keller; Ulrich Zander; Julian E Fuchs; Christoph Kreutz; Katrin Watschinger; Thomas Mueller; Georg Golderer; Klaus R Liedl; Markus Ralser; Bernhard Kräutler; Ernst R Werner; Jose A Marquez
Journal:  Nat Commun       Date:  2014-07-22       Impact factor: 14.919

9.  Genotype and phenotype variability in Sjögren-Larsson syndrome.

Authors:  Maximilian Weustenfeld; Reiner Eidelpes; Matthias Schmuth; William B Rizzo; Johannes Zschocke; Markus A Keller
Journal:  Hum Mutat       Date:  2018-11-26       Impact factor: 4.878

10.  Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Authors:  William B Rizzo; Dana S'Aulis; M Anitia Jennings; Debra A Crumrine; Mary L Williams; Peter M Elias
Journal:  Arch Dermatol Res       Date:  2010-01-05       Impact factor: 3.017
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