Christian Beetz

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

The paper identifies PPM1M as a phosphatase that reverses LRRK2-mediated Rab phosphorylation and links a rare mutation to Parkinson's disease.

The paper investigates the role of ATP10D and GlcCer in Parkinson's disease, finding ATP10D regulates plasma GlcCer levels but is not involved in PD pathogenesis.

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.