Márta Korbonits

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

Disruption of the Wnt-antagonist Apc in the pituitary stem cells drives the development of adamantinomatous craniopharyngioma.

This study shows that disrupting Apc in pituitary stem cells causes adamantinomatous craniopharyngioma (aCP) in mice, independent of β-catenin mutations, and identifies Sox2+ stem cells as the cell of origin.

Chaperone AIP Couples mTORC1 Activation and Catabolic Metabolism During Neonatal Development

The paper identifies AIP as a regulator that links mTORC1 activation with catabolic metabolism during neonatal development, ensuring metabolic adaptation and survival.

Biallelic Loss of Molecular Chaperone Molecule AIP Results in a Novel Severe Multisystem Disease Defined by Defective Proteostasis

This study shows that biallelic AIP loss causes a severe pediatric disease with proteostasis defects, observed in human and zebrafish models.

Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males

This paper identifies a MAFA S64F variant causing sex-dependent β cell dysfunction and diabetes by accelerating aging and senescence in males.