Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.

Nature genetics - 1 Jul 1997

Jackson R S, Creemers J W, Ohagi S, Raffin-Sanson M L, Sanders L, Montague C T, Hutton J C, O'Rahilly S

Abstract excerpt

Human obesity has an inherited component, but in contrast to rodent obesity, precise genetic defects have yet to be defined. A mutation of carboxypeptidase E (CPE), an enzyme active in the processing and sorting of prohormones, causes obesity in the fat/fat mouse. We have previously described a women with extreme childhood obesity (Fig. 1), abnormal glucose homeostasis, hypogonadotrophic hypogonadism,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Cricetinae

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique

Share to Heterozygote

Share to Mice, Inbred Strains

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 9207799
DOI: 10.1038/ng0797-303

Genes

CPE
POMC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.PMID 9207799Read ↗

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.Semantic proximity Read ↗

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.Semantic proximity Read ↗

Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity.Semantic proximity Read ↗

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic HypogonadismSemantic proximity Read ↗

Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.Semantic proximity Read ↗

Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3Semantic proximity Read ↗

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal DisordersSemantic proximity Read ↗

Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.Semantic proximity Read ↗

Hypothalamic proopiomelanocortin processing and the regulation of energy balance.Semantic proximity Read ↗

Deficits in reproduction and pro-gonadotropin-releasing hormone processing in male Cpefat mice.Semantic proximity Read ↗

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanismSemantic proximity Read ↗

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.