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4. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Rizzo WB; Carney G; Lin Z Am J Hum Genet; 1999 Dec; 65(6):1547-60. PubMed ID: 10577908 [TBL] [Abstract][Full Text] [Related]
5. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. De Laurenzi V; Rogers GR; Hamrock DJ; Marekov LN; Steinert PM; Compton JG; Markova N; Rizzo WB Nat Genet; 1996 Jan; 12(1):52-7. PubMed ID: 8528251 [TBL] [Abstract][Full Text] [Related]
6. Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome. Haug S; Braun-Falco M Gene Ther; 2006 Jul; 13(13):1021-6. PubMed ID: 16525484 [TBL] [Abstract][Full Text] [Related]
7. Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene. Lin Z; Carney G; Rizzo WB Mol Genet Metab; 2000 Nov; 71(3):496-505. PubMed ID: 11073717 [TBL] [Abstract][Full Text] [Related]
8. An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation. Sakai K; Akiyama M; Yanagi T; Nampoothiri S; Mampilly T; Sunitha V; Shimizu H Int J Dermatol; 2010 Sep; 49(9):1031-3. PubMed ID: 20883264 [TBL] [Abstract][Full Text] [Related]
9. Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. Didona B; Codispoti A; Bertini E; Rizzo WB; Carney G; Zambruno G; Dionisi-Vici C; Paradisi M; Pedicelli C; Melino G; Terrinoni A J Hum Genet; 2007; 52(10):865-870. PubMed ID: 17902024 [TBL] [Abstract][Full Text] [Related]
10. A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. Keller MA; Zander U; Fuchs JE; Kreutz C; Watschinger K; Mueller T; Golderer G; Liedl KR; Ralser M; Kräutler B; Werner ER; Marquez JA Nat Commun; 2014 Jul; 5():4439. PubMed ID: 25047030 [TBL] [Abstract][Full Text] [Related]
11. A common deletion mutation in European patients with Sjögren-Larsson syndrome. Rizzo WB; Carney G; De Laurenzi V Biochem Mol Med; 1997 Dec; 62(2):178-81. PubMed ID: 9441870 [TBL] [Abstract][Full Text] [Related]
13. Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. Haug S; Braun-Falco M Arch Dermatol Res; 2005 Jun; 296(12):568-72. PubMed ID: 15834613 [TBL] [Abstract][Full Text] [Related]
14. Compound heterozygous mutations in the Liu YD; Lin HJ; Li CY; Sun GF; Hu XB; Ma MY; Sun Y; Feng BZ; Li QB; Kong QX Int J Neurosci; 2020 Nov; 130(11):1156-1160. PubMed ID: 31944864 [No Abstract] [Full Text] [Related]
15. Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome. Lloyd MD; Boardman KD; Smith A; van den Brink DM; Wanders RJ; Threadgill MD J Enzyme Inhib Med Chem; 2007 Oct; 22(5):584-90. PubMed ID: 18035827 [TBL] [Abstract][Full Text] [Related]
16. A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. Sillén A; Jagell S; Wadelius C Hum Genet; 1997 Aug; 100(2):201-3. PubMed ID: 9254849 [TBL] [Abstract][Full Text] [Related]
17. RNA-based mutation screening in German families with Sjögren-Larsson syndrome. Kraus C; Braun-Quentin C; Ballhausen WG; Pfeiffer RA Eur J Hum Genet; 2000 Apr; 8(4):299-306. PubMed ID: 10854114 [TBL] [Abstract][Full Text] [Related]
18. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. Rizzo WB; Craft DA J Clin Invest; 1991 Nov; 88(5):1643-8. PubMed ID: 1939650 [TBL] [Abstract][Full Text] [Related]
19. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Sillén A; Anton-Lamprecht I; Braun-Quentin C; Kraus CS; Sayli BS; Ayuso C; Jagell S; Küster W; Wadelius C Hum Mutat; 1998; 12(6):377-84. PubMed ID: 9829906 [TBL] [Abstract][Full Text] [Related]
20. Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson syndrome. Rizzo WB; Heinz E; Simon M; Craft DA Biochim Biophys Acta; 2000 Dec; 1535(1):1-9. PubMed ID: 11113626 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]