Literature DB >> 18684595

A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.

Hajime Nakano, Eijiro Akasaka, Daiki Rokunohe, Shohei Yokoyama, Yuka Toyomaki, Noriko Umegaki, Yoshihiko Mitsuhashi, Daisuke Sawamura.   

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Year:  2008        PMID： 18684595     DOI： 10.1016/j.jdermsci.2008.06.006

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  3 in total

1.  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

2.  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

3.  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
  3 in total

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