ArticleMammalian genome : official journal of the International Mammalian Genome Society2020
A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Understanding peptide hormones: from precursor proteins to bioactive molecules.Trends in biochemical sciences · 2025Review
- Article
- Prohormone convertase 1/3 deficiency causes obesity due to impaired proinsulin processing.Nature communications · 2022Article
- The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.Endocrinology · 2022Article
- Genetics, genomics, and diet interactions in obesity in the Latin American environment.Frontiers in nutrition · 2022Review
- Obesity, POMC, and POMC-processing Enzymes: Surprising Results From Animal Models.Endocrinology · 2021Review
- Gene expression atlas of energy balance brain regions.JCI insight · 2021Article
- Brown preadipocyte transplantation locally ameliorates obesity.Archives of plastic surgery · 2021Article
- Mouse Models of Human Proprotein Convertase Insufficiency.Endocrine reviews · 2021Review
- High-Throughput Screening of Mouse Gene Knockouts Identifies Established and Novel High Body Fat Phenotypes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
- Beneficial impact of epigallocatechingallate on LDL-C through PCSK9/LDLR pathway by blocking HNF1α and activating FoxO3a.Journal of translational medicine · 2020Article
- Obesity ofDiabetes, metabolic syndrome and obesity : targets and therapy · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The proprotein convertase subtilisin/Kexin type 1 (PCSK1/PC1) protein processes inactive pro-hormone precursors into biologically active hormones in a number of neuroendocrine and endocrine cell types. Patients with recessive mutations in PCSK1 exhibit a complex spectrum of traits including obesity, diarrhoea and endocrine disorders. We describe here a new mouse model with a point mutation in the Pcsk1 gene that exhibits obesity, hyperphagia, transient diarrhoea and hyperproinsulinaemia, phenotypes consistent with human patient traits. The mutation results in a pV96L amino acid substitution and changes the first nucleotide of mouse exon 3 leading to skipping of that exon and in homozygotes very little full-length transcript. Overexpression of the exon 3 deleted protein or the 96L protein results in ER retention in Neuro2a cells. This is the second Pcsk1 mouse model to display obesity phenotypes, contrasting knockout mouse alleles. This model will be useful in investigating the basis of endocrine disease resulting from prohormone processing defects.
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Registered trials
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