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M. Wabitsch

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5 papers indexed here

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Open access Sep 2026

Comprehensive assessment of the genotype-phenotype spectrum and treatment for monoallelic insulin receptoropathy in a cohort of 505 people

Abstract Background Insulin signalling is mediated by the INSR -encoded receptor tyrosine kinase. Biallelic INSR variants cause the most severe insulin resistance (IR), whereas heterozygous mutations cause less rare but still severe IR. Dominantly inherited IR has been attributed to dominant negative action of intracel...

Rebecca Brown, Jing-Xiang Xu, J. Luan et al. · 0 citations
Open access Aug 2026

Calpeptin Reduces Extracellular Vesicle Secretion and Induces Anti‐Inflammatory Effects but Upregulates HO‐1 and Alters Adiponectin Levels in Human Adipocytes

ABSTRACT Recent studies have shown that adipose tissue (AT) secretes elevated levels of extracellular vesicles (EVs) in obesity, and these EVs play roles in metabolic diseases. The inhibition of calpains has anti‐inflammatory and anti‐fibrotic effects on AT in mice and reduces EV secretion in some cell types in vitro....

Johanna Matilainen, Sanni Foster, Viivi Berg et al. · 1 citation
Open access Aug 2026

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care.

Advances in research enable precision medicine for rare metabolic diseases. The approval of therapies as melanocortin-4 receptor (MC4R) agonists for the treatment of hyperphagia and obesity in monogenic disorders (POMC, PCSK1, and LEPR deficiencies) and Bardet-Biedl syndrome (BBS), affecting fewer than 1 in 20,000 (BBS...

Karine Clément, I. Farooqi, Peter Kühnen et al. · 0 citations
Open access Aug 2026

P256 - ECE_2728 - Impact of setmelanotide on metabolic index scores in Phase 3 trial participants with acquired hypothalamic obesity

The findings highlight the broad metabolic benefits and strong clinically meaningful efficacy of setmelanotide in this population, supporting its potential as a therapeutic option for patients with aHO and suggest reductions in visceral fat burden, hepatic steatosis, and overall cardiometabolic risk.

H. V. van Santen, S. Phillips, J. Hamilton et al. · 0 citations
Open access Jul 2026

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific

While patients with Lamin A/C Arg482 missense changes are at very low risk for progressive CKD, patients harboring Arg349Trp show nephrotic range proteinuria and kidney failure in midlife, and patients with the Arg349Trp substitution require early renoprotective intervention to potentially halt progression and prevent...

Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed et al. · 0 citations

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