ArticleJournal of clinical research in pediatric endocrinology2021
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
Article in Journal of clinical research in pediatric endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic variants of the leptin-melanocortin pathway in a clinically selected Greek cohort with severe early-onset obesity and hyperphagia: implications for precision obesity medicine.Obesity pillars · 2026Article
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Nutraceuticals as modulators of genetic, epigenetic and hormonal factors in obesity.European journal of clinical nutrition · 2026Review
- Neurotrophic factor-α1/carboxypeptidase E regulates critical protein networks to rescue neurodegeneration, defective synaptogenesis and impaired autophagy in Alzheimer's disease mice.Translational neurodegeneration · 2025Article
- Navigating the Strengths and Constraints of Mouse Models in Obesity Research.Endocrinology · 2025Review
- Neuroendocrinology and the Genetics of Obesity.Endocrinology · 2025Review
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Insulin receptor isoform B is required for efficient proinsulin processing in pancreatic β cells.iScience · 2024Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach.European journal of pediatrics · 2023Review
- Article
- Neuroendocrine Effects on the Risk of Metabolic Syndrome in Children.Metabolites · 2023Review
- Carboxypeptidase E conditional knockout mice exhibit learning and memory deficits and neurodegeneration.Translational psychiatry · 2023Article
- Mice heterozygous for a null mutation of CPE show reduced expression of carboxypeptidase e mRNA and enzyme activity but normal physiology, behavior, and levels of neuropeptides.Brain research · 2022Article
- Neurotrophic Factor-α1/Carboxypeptidase E Functions in Neuroprotection and Alleviates Depression.Frontiers in molecular neuroscience · 2022Review
- Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity: A study protocol of the Polish-German study project on severe early-onset obesity.Frontiers in endocrinology · 2022Article
- Novel interaction between neurotrophic factor-α1/carboxypeptidase E and serotonin receptor, 5-HTR1E, protects human neurons against oxidative/neuroexcitotoxic stress via β-arrestin/ERK signaling.Cellular and molecular life sciences : CMLS · 2021Article
- Obesity, POMC, and POMC-processing Enzymes: Surprising Results From Animal Models.Endocrinology · 2021Review
- Neuropeptidomic Analysis of a Genetically Defined Cell Type in Mouse Brain and Pituitary.Cell chemical biology · 2021Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. Methods: Herein are described three siblings with obesity, intellectual disability and hypogonadotropic hypogonadism. Whole exome sequencing (WES) was performed in the index case. Candidate variants were prioritised and segregation of the variant, consistent with the phenotype of the index case, was assessed by Sanger sequencing in affected siblings and parents. Results: WES analysis revealed a homozygous nonsense c.405C>A (p.Y135*) mutation in Conclusion: This study provides additional evidence of the association between a homozygous nonsense mutation in
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