AAAS Antibody

1. Mutation in AAAS gene is associated with triple A syndrome. PMID: 29874194
2. Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described. PMID: 29255950
3. Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients. PMID: 29237697
4. This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function. PMID: 27414811
5. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. PMID: 25781531
6. down-regulating ALADIN results in decreased oxidative stress response leading to alteration in steroidogenesis, highlighting our knock-down cell model as an important in-vitro tool for studying the adrenal phenotype in triple A syndrome PMID: 25867024
7. Data suggest ALADIN is involved in resistance to oxidative stress in adrenocortical cells/neurons; ALADIN knockdown down-regulates StAR (steroidogenic acute regulatory protein) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1). PMID: 23825130
8. The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein. PMID: 23073554
9. identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome PMID: 21565631
10. Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings triple A syndrome. PMID: 20931227
11. In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and start substitution therapy as soon as adrenal insufficiency is noted. PMID: 20499090
12. Study broadened the allelic and phenotypic spectrum of Allgrove syndrome due to AAAS mutations; the recurrence of the Leu469Pro mutation highlights a possible major role for this alteration in the Italian population. PMID: 20447142
13. ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed. PMID: 19855093
14. a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function PMID: 11815731
15. plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues; NPC targeting is essential for the function of ALADIN PMID: 12730363
16. myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation PMID: 15022193
17. In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. PMID: 15217518
18. Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment. PMID: 15666842
19. Widespread but not ubiquitous or uniform expression of AAAS mRNA in the developing rat embryo. PMID: 15680696
20. Data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome. PMID: 15843079
21. novel splice variant AAAS-v2 encodes a 513-amino acid polypeptide, which contains three WD40 domains; AAAS-v2 and AAAS-v1 were ubiquitously detected in human tissues PMID: 16022285
22. 3 subjects with classic AAAS did not have mutations in AAAS gene on both alleles. This supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded. PMID: 16098009
23. The mutation of the AAAS gene is a novel mutation and this case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene. PMID: 16543750
24. With transfection experiments, we analyzed the cellular localization of the wild-type and 17 natural mutant variants (9 missense, 5 nonsense, 3 frameshift mutations) of ALADIN. PMID: 16609705
25. novel homozygous mutation within intron 5 (IVS5+1G-->A) illustrates the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome PMID: 16938764
26. Report a case of adult onset Allgrove syndrome had no mutation in the ALADIN gene on chromosome 12q13. PMID: 18175081
27. The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency. PMID: 19011813
28. AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient. PMID: 19172511
29. The study shows that ALADIN is a protein with a molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. ALADIN is localized in the nuclear membrane. PMID: 19322026
30. NDC1-mediated localization of ALADIN to nuclear pore complexes is essential for selective nuclear protein import; abrogation of the interaction between ALADIN and NDC1 may be important for the development of triple-A syndrome. PMID: 19703420
31. ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. PMID: 19782045

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HGNC: 13666

OMIM: 231550

KEGG: hsa:8086

STRING: 9606.ENSP00000209873

UniGene: Hs.369144