Publications Database

Defects in the only human mitochondrial polymerase, the Polymerase Gamma (Polγ) encoded by the POLGgene, cause mitochondriopathies like Alpers Syndrome or MEMSA typically leading to medication resistant fatalseizures. Pathomechanistically, depletion of mitochondrial DNA leads to mitochondrial malfunction. [...]

Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset disease marked by a progressive degeneration of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex. Death in most patients usually occurs within 2–4 years after symptoms onset. [...]

Inhibition of the mitochondrial oxidative phosphorylation (OXPHOS) system can lead to metabolic disorders and neurodegenerative diseases. In primary mitochondrial disorders, reactive astrocytes often accompany neuronal degeneration and may contribute to neurotoxic inflammatory cascades that elicit brain lesions. [...]

Aggregation of alpha-synuclein (aSyn) occurs in presynaptic neurons and constitutes a key factor for the progression of Parkinson's disease, emphasising the urgency of early detection to support effective treatment. Unfortunately, a reliable, sensitive and cost-effective diagnostic tool has so far been lacking. [...]

Artificial intelligence (AI) models often face performance drops after deployment to external datasets. This study evaluated the potential of a novel data augmentation framework based on generative adversarial networks (GANs) that creates synthetic patient image data for model training to improve model generalizability. [...]