Umut Altunoğlu

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

PYCR1 Levels Track with Premature and Chronological Skin Aging

The paper investigates PYCR1 levels in skin aging, finding they decrease with both induced and chronological aging in human skin.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.