| 1 | AAAS, NDC1
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| The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes.
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| Yamazumi Y, Kamiya A, Nishida A, Nishihara A, Iemura S, Natsume T, Akiyama T.
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| Biochem Biophys Res Commun 389(1):100-4. Epub 2009 Aug 22. 2009
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| 2 | AAAS, NDC1
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| The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.
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| Kind B, Koehler K, Lorenz M, Huebner A.
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| Biochem Biophys Res Commun 390(2):205-10. Epub 2009 Sep 24.PMID: 19782045 2009
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| 3 | AAAS, FTH1
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| Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
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| Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ.
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| Mol Endocrinol 23(12):2086-94. Epub 2009 Oct 23.PMID: 19855093 2009
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| 4 | AAAS
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| Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
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| Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A.
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| Eur J Hum Genet 16(12):1499-506. Epub 2008 Jul 16.
2008
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| 5 | AAAS
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| ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome.
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| Hirano M, Furiya Y, Asai H, Yasui A, Ueno S.
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| Proc Natl Acad Sci U S A 103(7):2298-303. Epub 2006 Feb 7. 2006
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| 6 | AAAS
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| Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
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| Krumbholz M, Koehler K, Huebner A.
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| Biochem Cell Biol 84(2):243-9. 2006
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| 7 | AAAS
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| A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.
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| Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M.
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| Horm Res 65(4):171-6. Epub 2006 Mar 15. 2006
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| 8 | AAAS
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| Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.
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| Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, Bei T, Bjornson B, Russell L, Chanoine JP, Tsagarakis S, Kalsner L, Stratakis C.
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| Clin Genet 68(3):215-21. 2005
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| 9 | AAAS
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| Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS.
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| Li X, Ji C, Gu J, Xu J, Jin Z, Sun L, Zou X, Lin Y, Sun R, Wang P, Gu S, Mao Y.
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| Mol Biol Rep 32(2):127-31. 2005
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| 10 | AAAS
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| The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene.
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| Salehi M, Houlden H, Sheikh A, Poretsky L.
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| Metabolism 54(2):200-5. 2005
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| 11 | AAAS
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| Two cases of Allgrove syndrome with mutations in the AAAS gene.
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| Kinjo S, Takemoto M, Miyako K, Kohno H, Tanaka T, Katsumata N.
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| Endocr J 51(5):473-7. 2004
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| 12 | AAAS
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| The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
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| Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K.
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| Endocr Res 30(4):891-9. 2004
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| 13 | AAAS
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| The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.
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| Cronshaw JM, Matunis MJ.
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| Proc Natl Acad Sci U S A 100(10):5823-7. Epub 2003 May 02. 2003
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| 14 | AAAS
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| Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
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| Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM.
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| Brain 125(Pt 12):2681-90. 2002
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| 15 | AAAS
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| Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
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| Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A.
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| Hum Mol Genet 10(3):283-90. 2001
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| 16 | AAAS
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| Mutant WD-repeat protein in triple-A syndrome.
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| Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Begeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S.
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| Nat Genet 26(3):332-5. 2000
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| 17 | AAAS
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| Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
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| Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laet MH, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain JL, Munnich A, Lyonnet S.
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| Eur J Hum Genet 8(8):613-20. 2000
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| 18 | AAAS, HADC
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| Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes : identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.
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| Wu SM, et al.
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| Mol Genet Metab 64 : 256-265. 1998
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| 19 | AAAS
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| Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.
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| Weber A, et al.
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| Hum Mol Genet 5 : 2061-2066. 1996
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