246 related articles for article (PubMed ID: 25047030)
1. 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]
2. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.
Rizzo WB; Lin Z; Carney G
Chem Biol Interact; 2001 Jan; 130-132(1-3):297-307. PubMed ID: 11306053
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Mol Genet Metab; 2007 Jan; 90(1):1-9. PubMed ID: 16996289
[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. Sjogren-Larsson syndrome associated hypermelanosis.
Xu YC; Hou JQ; Zhu WJ; Li P
J Cosmet Dermatol; 2020 Apr; 19(4):789-798. PubMed ID: 31697031
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB; Carney G
Hum Mutat; 2005 Jul; 26(1):1-10. PubMed ID: 15931689
[TBL] [Abstract][Full Text] [Related]
10. 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]
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]
12. Incomplete Sjögren-Larsson syndrome in two Japanese siblings.
Kawakami T; Saito R; Fujikawa Y; Kazama H; Shinomiya N; Yamaguchi K; Yamaguchi Y; Aoki T; Kobayashi T
Dermatology; 1999; 198(1):93-6. PubMed ID: 10026413
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
Sanders RJ; Ofman R; Dekker C; Kemp S; Wanders RJ
J Chromatogr B Analyt Technol Biomed Life Sci; 2009 Feb; 877(4):451-5. PubMed ID: 19124283
[TBL] [Abstract][Full Text] [Related]
16. Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene.
Botelho Gomes JM; Vieira AP; Navarro J; Maré R; Tavares P; Brito C
Eur J Dermatol; 2011; 21(3):412-3. PubMed ID: 21524986
[No 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. Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M; Eidelpes R; Schmuth M; Rizzo WB; Zschocke J; Keller MA
Hum Mutat; 2019 Feb; 40(2):177-186. PubMed ID: 30372562
[TBL] [Abstract][Full Text] [Related]
19. Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid.
Verhoeven NM; Jakobs C; Carney G; Somers MP; Wanders RJ; Rizzo WB
FEBS Lett; 1998 Jun; 429(3):225-8. PubMed ID: 9662422
[TBL] [Abstract][Full Text] [Related]
20. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Rajeshwari M; Karthi S; Singh R; Efthymiou S; Gowda VK; Varalakshmi P; Srinivasan VM; Houlden H; Keller MA; Rizzo WB; Ashokkumar B
Hum Mutat; 2021 Aug; 42(8):1015-1029. PubMed ID: 34082469
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]