Author

Max Holzer

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Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

We provide a comprehensive phenotypic characterization of loss-of-function (LoF) variants in WDFY3 based on the largest cohort reported to date (n = 32). Our findings define a monogenic disorder marked by neuropsychiatric features (including autism and ADHD), mild to moderate neurodevelopmental delay, and variable brai...

Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al. · Molecular Psychiatry · 0 citations

Open access Sep 2026

Evidence for similar enzymatic but different cellular generation of pE79-modified α-synuclein in PD and AD mouse models.

The α-synuclein (aSyn) pathology is a predominant feature of synucleinopathies such as Parkinson's disease (PD). Triggers that may induce aSyn aggregation are not completely understood, but include post-translational modifications. One such modification is aSyn truncation exposing the N-terminal glutamine 79 residue th...

A. Bluhm, Merle Großmann, Charlotte Minister et al. · Neurochemistry International · 0 citations