| Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome. | Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS., Free PMC Article | 10/22/2024 |
| Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. | Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS, Gupta R, Agrawal K, Das L, Dutta P, Bhansali A. | 10/30/2021 |
| A homozygous deletion of the entire AAAS gene was identified in a patient with triple A syndrome. | Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.
Koehler K, Hackmann K, Landgraf D, Schubert T, Shakiba M, Kariminejad A, Huebner A. | 09/7/2019 |
| AAAS mutations were identified in two families with hereditary spastic paraplegia. | Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z., Free PMC Article | 01/26/2019 |
| Mutation in AAAS gene is associated with triple A syndrome. | Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K, Puri RD, Bhai P, Arya AD, Chawla G, Saxena R, Verma IC. | 10/27/2018 |
| Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described. | Clinical and genetic characterisation of a series of patients with triple A syndrome.
Kurnaz E, Duminuco P, Aycan Z, Savaş-Erdeve Ş, Muratoğlu Şahin N, Keskin M, Bayramoğlu E, Bonomi M, Çetinkaya S. | 07/21/2018 |
| Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients. | Triple-A syndrome: a wide spectrum of adrenal dysfunction.
Roucher-Boulez F, Brac de la Perriere A, Jacquez A, Chau D, Guignat L, Vial C, Morel Y, Nicolino M, Raverot G, Pugeat M. | 02/24/2018 |
| This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function. | Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Kallabi F, Ben Rhouma B, Baklouti S, Ghorbel R, Felhi R, Keskes L, Kamoun H. | 04/8/2017 |
| Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. | Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
Bustanji H, Sahar B, Huebner A, Ajlouni K, Landgraf D, Hamamy H, Koehler K. | 04/16/2016 |
| 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 | Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.
Jühlen R, Idkowiak J, Taylor AE, Kind B, Arlt W, Huebner A, Koehler K., Free PMC Article | 04/2/2016 |
| 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). | Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.
Prasad R, Metherell LA, Clark AJ, Storr HL., Free PMC Article | 11/16/2013 |
| The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein. | The genetic basis of triple A (Allgrove) syndrome in a Greek family.
Papageorgiou L, Mimidis K, Katsani KR, Fakis G. | 02/2/2013 |
| identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome | Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
Yassaee VR, Soltani Z, Ardakani BM. | 10/29/2011 |
| 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. | Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.
Dumić M, Barišić N, Rojnić-Putarek N, Kušec V, Stanimirović A, Koehler K, Huebner A. | 07/2/2011 |
| 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. | Triple A syndrome: 32 years experience of a single centre (1977-2008).
Milenkovic T, Zdravkovic D, Savic N, Todorovic S, Mitrovic K, Koehler K, Huebner A. | 02/26/2011 |
| 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. | Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L. | 07/12/2010 |
| ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed. | Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ., Free PMC Article | 03/1/2010 |
| ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. | The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.
Kind B, Koehler K, Lorenz M, Huebner A. | 01/21/2010 |
| 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. | The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes.
Yamazumi Y, Kamiya A, Nishida A, Nishihara A, Iemura S, Natsume T, Akiyama T. | 01/21/2010 |
| 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. | Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.
Cho AR, Yang KJ, Bae Y, Bahk YY, Kim E, Lee H, Kim JK, Park W, Rhim H, Choi SY, Imanaka T, Moon S, Yoon J, Yoon SK., Free PMC Article | 01/21/2010 |
| AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient. | Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.
Villanueva-Mendoza C, artínez-Guzmán O, Rivera-Parra D, Zenteno JC. | 01/21/2010 |
| The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency. | Triple A syndrome.
Menon SK, Bangar TR, Kaba A, Shah R, Menon PS, Shah NS. | 01/21/2010 |
| Report a case of adult onset Allgrove syndrome had no mutation in the ALADIN gene on chromosome 12q13. | Case report of adult-onset Allgrove syndrome.
Gilio F, Di Rezze S, Conte A, Frasca V, Iacovelli E, Marini Bettolo C, Gabriele M, Giacomelli E, Pizzuti A, Pirro C, Fattapposta F, Habib FI, Prencipe M, Inghilleri M. | 01/21/2010 |
| In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. | Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA., Free PMC Article | 01/21/2010 |
| myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation | Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, de Villemeur TB. | 01/21/2010 |