Małgorzata Rydzanicz

Mutation in mitochondrial chaperone TRAP1 results in male-specific autism

A mutation in the TRAP1 gene causes autism-like behaviors in male mice, suggesting a role for mitochondrial protein homeostasis in male-specific autism.

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Cancers Identifies KMT2C as a Potential Tumor Suppressor

The paper analyzes the mutational profile of hypopharyngeal and laryngeal cancers, identifying KMT2C as a potential tumor suppressor through in vitro experiments.

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

The paper identifies a de novo FEM1C variant linked to neurodevelopmental disorder and shows its pathogenicity using in vitro and in vivo models.

The RNA-binding landscape of HAX1 protein indicates its involvement in ribosome biogenesis and translation.

The paper identifies HAX1 RNA targets and shows its role in ribosome biogenesis and translation, linking it to disease mechanisms.