ArticleInternational journal of molecular medicine2022
Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.
Article in International journal of molecular medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 18 citations in OpenAlex.
- AnResearch square · 2026Article
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Article
- A Rare Case of Monogenic Obesity Due to a Novel Variant in theJournal of clinical research in pediatric endocrinology · 2025Article
- Unveiling genetic signatures of immune response in immune-related diseases through single-cell eQTL analysis across diverse conditions.Nature communications · 2025Article
- Protein-coding mutation in Adcy3 increases adiposity and alters emotional behaviors sex-dependently in rats.Obesity (Silver Spring, Md.) · 2025Article
- Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity.International journal of molecular sciences · 2024Article
- Cellular Senescence and Extracellular Vesicles in the Pathogenesis and Treatment of Obesity-A Narrative Review.International journal of molecular sciences · 2024Review
- Protein-coding mutation inbioRxiv : the preprint server for biology · 2024Article
- Cold-induced expression of a truncated adenylyl cyclase 3 acts as rheostat to brown fat function.Nature metabolism · 2024Article
- Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.Orphanet journal of rare diseases · 2024Article
- Article
- Adenylate cyclase 3: a potential genetic link between obesity and major depressive disorder.Physiological genomics · 2024Review
- Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.Life (Basel, Switzerland) · 2023Article
- A Study of 41 Canine Orthologues of Human Genes Involved in Monogenic Obesity Reveals Marker in theVeterinary sciences · 2023Article
- Genetic Mapping of Multiple Traits Identifies Novel Genes for Adiposity, Lipids, and Insulin Secretory Capacity in Outbred Rats.Diabetes · 2023Article
- A 2022 update on the epidemiology of obesity and a call to action: as its twin COVID-19 pandemic appears to be receding, the obesity and dysmetabolism pandemic continues to rage on.Metabolism: clinical and experimental · 2022Article
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe early‑onset obesity is mainly attributed to single gene variations of the hypothalamic leptin‑melanocortin system, which is critical for controlling the balance between appetite and energy expenditure. Adenylate cyclase 3 (ADCY3), a transmembrane enzyme localized in primary neuronal cilia, is a key genetic candidate, which appears to have an essential role in regulating body weight. The present study aimed to identify ADCY3 genetic variants in severely obese young patients of Greek‑Cypriot origin by genomic sequencing. Apart from previously reported variants, the novel and probably pathogenic variant c.349T>A, causing a p.Leu117Met substitution within one of the two pseudo‑symmetric halves of the transmembrane part of the protein, was reported. Molecular modelling analysis used to delineate bonding interactions within the mutated protein structure strongly suggested a change in interactive forces and energy levels affecting the pseudo‑twofold symmetry of the transmembrane domain of the protein and probably its catalytic function. These results support the involvement of ADCY3 in the pathology of the disease and point towards the requirement of defining protein function and evaluating the clinical significance of the detected variants.
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