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

Biologically inactive leptin and early-onset extreme obesity.

The New England journal of medicine - 1 Jan 2015

Wabitsch Martin, Funcke Jan-Bernd, Lennerz Belinda, Kuhnle-Krahl Ursula, Lahr Georgia, Debatin Klaus-Michael, Vatter Petra, Gierschik Peter, Moepps Barbara, Fischer-Posovszky Pamela

Abstract excerpt

Mutations in the gene encoding leptin (LEP) typically lead to an absence of circulating leptin and to extreme obesity. We describe a 2-year-old boy with early-onset extreme obesity due to a novel homozygous transversion (c.298G→T) in LEP, leading to a change from aspartic acid to tyrosine at amino acid position 100 (p.D100Y) and high immunoreactive levels of leptin. Overexpression studies confirmed that the...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Body Mass Index

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cells, Cultured

Share to Feeding Behavior

Share to Leptin

Share to Mice, Inbred Strains

Share to Obesity

Share to Receptors, Leptin

Source

Identifiers

PMID: 25551525
DOI: 10.1056/NEJMoa1406653

Genes

LEP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biologically inactive leptin and early-onset extreme obesity.PMID 25551525Read ↗

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.Semantic proximity Read ↗

A New Missense Mutation in the Leptin Gene Causes Mild Obesity and Hypogonadism without Affecting T Cell ResponsivenessSemantic proximity Read ↗

Functional and Phenotypic Characteristics of Human Leptin Receptor MutationsSemantic proximity Read ↗

Rare Antagonistic Leptin Variants and Severe, Early-Onset ObesitySemantic proximity Read ↗

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe ObesitySemantic proximity Read ↗

Congenital leptin deficiency is associated with severe early-onset obesity in humansSemantic proximity Read ↗

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.Semantic proximity Read ↗

Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.Semantic proximity Read ↗

When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.Semantic proximity Read ↗

Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.Semantic proximity Read ↗

A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.Semantic proximity Read ↗

The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan.Semantic proximity Read ↗

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