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Allgrove syndrome with amyotrophy.
Soares MC, Lins OG, Lima de Carvalho JR, de Sá CC, Van der Linden V, Covaleski APPM. Soares MC, et al. Pract Neurol. 2022 Jun;22(3):213-215. doi: 10.1136/practneurol-2021-003192. Epub 2021 Dec 30. Pract Neurol. 2022. PMID: 34969826
Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. ...Awareness of its neurological manifestation …
Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features bu …
Identification of endoplasmic reticulum stress and mitochondrial dysfunction related biomarkers in osteoporosis.
Chen Y, Bi K, Zhang C, Gu J, Yu Z, Lu J, Yu L. Chen Y, et al. Hereditas. 2025 Feb 14;162(1):21. doi: 10.1186/s41065-025-00387-7. Hereditas. 2025. PMID: 39953608 Free PMC article.
The 5 key genes were identified, including AAAS, ESR1, SLC12A2, TAF15, and VAMP2. Immune infiltration analysis showed monocyte and macrophage were different between OP and control groups. ...CONCLUSION: This research identified 5 key genes AAAS, ESR1, SLC12A2, TAF15 …
The 5 key genes were identified, including AAAS, ESR1, SLC12A2, TAF15, and VAMP2. Immune infiltration analysis showed monocyte and ma …
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.
Bitetto G, Lopez G, Ronchi D, Pittaro A, Melzi V, Peverelli E, Cribiù FM, Comi GP, Mantovani G, Di Fonzo A. Bitetto G, et al. Orphanet J Rare Dis. 2023 Jun 19;18(1):152. doi: 10.1186/s13023-023-02763-w. Orphanet J Rare Dis. 2023. PMID: 37331934 Free PMC article.
Allgrove disease is due to recessive mutations in the AAAS gene, which encodes for the nucleoporin Aladin, implicated in the nucleocytoplasmic transport. ...
Allgrove disease is due to recessive mutations in the AAAS gene, which encodes for the nucleoporin Aladin, implicated in the nucleocy …
The evaluation of thiol-disulfide homeostasis in children with Triple-A syndrome.
Polat R, Yıldırım R, Ustyol A, Turan I, Erel Ö. Polat R, et al. Eur Rev Med Pharmacol Sci. 2023 Feb;27(4):1576-1581. doi: 10.26355/eurrev_202302_31400. Eur Rev Med Pharmacol Sci. 2023. PMID: 36876713 Free article.
OBJECTIVE: Triple-A syndrome occurs due to the dysfunction of the ALADIN protein as a result of a mutation in the AAAS gene. ALADIN is involved in redox homeostasis in human adrenal cells and steroidogenesis. ...
OBJECTIVE: Triple-A syndrome occurs due to the dysfunction of the ALADIN protein as a result of a mutation in the AAAS gene. ALADIN i …
Mutation of the nuclear pore complex component, aladin1, disrupts asymmetric cell division in Zea mays (maize).
Best NB, Addo-Quaye C, Kim BS, Weil CF, Schulz B, Johal G, Dilkes BP. Best NB, et al. G3 (Bethesda). 2021 Jul 14;11(7):jkab106. doi: 10.1093/g3journal/jkab106. G3 (Bethesda). 2021. PMID: 36351283 Free PMC article.
Dysfunction of many components of the NPC results in human genetic diseases, including triple A syndrome (AAAS) as a result of mutations in ALADIN. Here, we report a nonsense mutation in the maize ortholog, aladin1 (ali1-1), at the orthologous amino acid residue of an A …
Dysfunction of many components of the NPC results in human genetic diseases, including triple A syndrome (AAAS) as a result of mutati …
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. Smits DJ, et al. HGG Adv. 2024 Oct 10;5(4):100327. doi: 10.1016/j.xhgg.2024.100327. Epub 2024 Jul 14. HGG Adv. 2024. PMID: 39003500 Free PMC article.
While no human disorder has been associated to one of the three transmembrane nucleoporins, biallelic variants in AAAS, encoding ALADIN, cause triple A syndrome (Allgrove syndrome). Triple A syndrome, characterized by alacrima, achalasia, and adrenal insufficiency, often i …
While no human disorder has been associated to one of the three transmembrane nucleoporins, biallelic variants in AAAS, encoding ALAD …
The relationship between dietary branched-chain and aromatic amino acids with the regulation of leptin and FTO genes in adipose tissue of patients undergoing abdominal surgery.
Teymoori F, Farhadnejad H, Norouzzadeh M, Jahromi MK, Saber N, Mokhtari E, Asghari G, Yuzbashian E, Mirmiran P, Khalaj A, Zarkesh M, Hedayati M, Vafa M. Teymoori F, et al. Amino Acids. 2025 Jan 11;57(1):8. doi: 10.1007/s00726-024-03441-2. Amino Acids. 2025. PMID: 39798053 Free PMC article.
The current study aimed to examine the association of dietary branched-chain amino acids(BCAAs) and aromatic amino acids(AAAs) with the expression of the leptin and FTO genes in the visceral and subcutaneous adipose tissues of individuals undergoing surgery. ...The samples …
The current study aimed to examine the association of dietary branched-chain amino acids(BCAAs) and aromatic amino acids(AAAs) with t …
Insights in non-CAH pediatric primary adrenal insufficiency: a single-center experience from India.
Daga A, Karlekar M, Lila A, Sarathi V, Sharma A, Memon SS, Barnabas R, Patil V, Thakker H, Shah N, Bandgar T. Daga A, et al. J Pediatr Endocrinol Metab. 2025 Feb 4;38(4):383-390. doi: 10.1515/jpem-2024-0476. Print 2025 Apr 28. J Pediatr Endocrinol Metab. 2025. PMID: 39898459
Mineralocorticoid deficiency was present in two-third patients including one patient each with AAAS, MRAP, and NNT mutation. Adrenoleukodystrophy (ALD) was the most common cause (40 %), followed by ACTH resistance states (20 %), early steroidogenic defects (13.3 %), congen …
Mineralocorticoid deficiency was present in two-third patients including one patient each with AAAS, MRAP, and NNT mutation. Adrenole …
A triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene.
Boz PB, Koç AF, Bereketoğlu MB. Boz PB, et al. Ideggyogy Sz. 2025 May 30;78(5-6):207-210. doi: 10.18071/isz.78.0207. Ideggyogy Sz. 2025. PMID: 40476452 Free article. English.
RESULTS: - We performed whole exome analysis on the patient and detected the c464G>A p.(Arg155His) variant in the AAAS gene in homozygous form. It was interpreted as 'pathogenic' according to the ACMG 2015 criteria: homozygous pathogenic variants in this gene correspond …
RESULTS: - We performed whole exome analysis on the patient and detected the c464G>A p.(Arg155His) variant in the AAAS gene in hom …