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

[1]  H. Nicholas,et al.  Relationships within the aldehyde dehydrogenase extended family , 2008, Protein science : a publication of the Protein Society.

[2]  A. Ishida-Yamamoto,et al.  Epidermal lamellar granules transport different cargoes as distinct aggregates. , 2004, The Journal of investigative dermatology.

[3]  M. Akiyama,et al.  Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. , 2003, The Journal of investigative dermatology.

[4]  M. Akiyama,et al.  Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. , 2001, The Journal of investigative dermatology.

[5]  W. Rizzo,et al.  The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. , 1999, American journal of human genetics.

[6]  M. Raghunath,et al.  A novel in situ method for the detection of deficient transglutaminase activity in the skin , 1998, Archives of Dermatological Research.

[7]  M. Akiyama,et al.  Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. , 1998, The Journal of investigative dermatology.

[8]  D. Hohl,et al.  In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study. , 1998, The Journal of investigative dermatology.

[9]  W. Rizzo,et al.  Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. , 1997, Biochimica et biophysica acta.

[10]  Yuh-Ju Sun,et al.  The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold , 1997, Nature Structural Biology.

[11]  J. Harper,et al.  Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses , 1994, The British journal of dermatology.

[12]  W. Rizzo.  Sjögren-Larsson syndrome. , 1993, Seminars in dermatology.

[13]  K. Holbrook,et al.  Abnormal lamellar granules in harlequin ichthyosis. , 1992, The Journal of investigative dermatology.

[14]  K. Oguro,et al.  Ultrastructural study of the skin in Sjögren — Larsson syndrome , 1991, Archives of Dermatological Research.

[15]  W. Rizzo,et al.  Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. , 1988, The Journal of clinical investigation.

[16]  P. Steinert,et al.  Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene , 1996, Nature Genetics.