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Achalasia, adrenocortical insufficiency, alacrimia

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, ACID, Nucleoporin
Papers on AAAS
Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia.
Crippa et al., Milano, Italy. In Eur J Paediatr Dent, Dec 2015
The syndrome is caused by mutations in the AAAS gene on chromosome 12q13 encoding a 546 aminoacid protein named alacrimia-achalasia-adrenal insufficiency neurologic disorder (ALADIN), a constituent of eukaryotic nuclear pore complexes.
Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
Kamoun et al., Sfax, Tunisia. In Horm Res Paediatr, Dec 2015
It is caused by mutations of the AAAS gene located on chromosome 12q13 encoding the WD-repeat protein ALADIN.
The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.
Griffis et al., Dundee, United Kingdom. In Mol Biol Cell, Nov 2015
In this study, we show that the nuclear pore protein ALADIN is a novel spatial regulator of Aurora A. Without ALADIN, Aurora A spreads from centrosomes onto spindle microtubules, which affects the distribution of a subset of microtubule regulators and slows spindle assembly and chromosome alignment.
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.
Cao et al., Beijing, China. In Exp Ther Med, Oct 2015
UNASSIGNED: Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima.
Novel Mutations in a Patient with Triple A Syndrome.
Huebner et al., Indore, India. In Indian Pediatr, Oct 2015
It is caused by mutations in AAAS gene which encodes a protein called ALADIN.
Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.
Huebner et al., Zagreb, Croatia. In Osteoporos Int, Sep 2015
UNASSIGNED: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein alacrima achalasia adrenal insufficiency neurologic disorder (ALADIN).
Transport of glutathione into the nucleus.
Foyer et al., Leeds, United Kingdom. In Free Radic Biol Med, 2014
ALADIN is encoded by the Achalasia-Addisonianism-Alacrimia (AAAS) gene in mammalian cells.
Effect of longacting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebo-controlled, multicentre trial.
ALADIN study group et al., Bergamo, Italy. In Lancet, 2013
BACKGROUND: Autosomal dominant polycystic kidney disease slowly progresses to end-stage renal disease and has no effective therapy.
Pathogenesis of achalasia cardia.
Singh et al., Lucknow, India. In World J Gastroenterol, 2012
Polymorphisms in genes encoding for nitric oxide synthase, receptors for vasoactive intestinal peptide, interleukin 23 and the ALADIN gene have been reported.
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.
Huebner et al., Zagreb, Croatia. In Eur J Pediatr, 2011
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.
Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
Ardakani et al., Tehrān, Iran. In Arch Med Res, 2011
identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome
Triple A syndrome: 32 years experience of a single centre (1977-2008).
Huebner et al., Belgrade, Serbia. In Eur J Pediatr, 2010
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.
Adult or late-onset triple A syndrome: case report and literature review.
Ikeda et al., Matsumoto, Japan. In J Neurol Sci, 2010
Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism.
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
Stuppia et al., In Clin Genet, 2010
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.
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
Clark et al., London, United Kingdom. In Mol Endocrinol, 2009
ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed.
Triple-A syndrome.
Shah et al., Mumbai, India. In Adv Exp Med Biol, 2009
Allgrove syndrome is characterized by mutation(s) in AAAS gene, located on chromosome 12q13, that codes for ALADIN protein.
The molecular basis of adrenocorticotrophin resistance syndrome.
Clark et al., São Paulo, Brazil. In Prog Mol Biol Transl Sci, 2008
The ALADIN protein (for alacrima/achalasia/adrenal insufficiency/neurologic disorder) was identified as the molecular basis of triple A syndrome.
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.
Rochira et al., Milano, Italy. In Horm Res, 2007
METHODS: Hormonal and biochemical evaluation, Schirmer test, tilt test and genetic testing for AAAS gene mutations.
Mutant WD-repeat protein in triple-A syndrome.
Lyonnet et al., Paris, France. In Nat Genet, 2000
The predicted product of AAAS, ALADIN (for alacrima-achalasia-adrenal insufficiency neurologic disorder), belongs to the WD-repeat family of regulatory proteins, indicating a new disease mechanism involved in triple-A syndrome.
AAAS Meeting: Science Smorgasbord with Snow.
B, In Science, 1988
Attendance at the AAAS annual meeting in Boston was at a record high for recent years, with 8700 people braving the half-finished Hynes Convention Center as well as wet snow and gale-force winds that closed Logan Airport on the first full day of the conference.
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