Philip Seibler

Long-read sequencing enables high-accuracy mitochondrial heteroplasmy detection in Parkinson's disease

This study uses long-read sequencing to accurately detect low-frequency mitochondrial heteroplasmy in Parkinson's disease patients and carriers.

Single-cell resolution uncovers cell type-specific dysregulation in Parkin-deficient neuron-microglia co-cultures

The paper uses single-nucleus RNA sequencing to identify cell type-specific dysregulation in Parkin-deficient neuron-microglia co-cultures, revealing distinct pathway disturbances in dopaminergic neurons and microglia.

Micronuclear collapse under oxidative stress drives amphisome-mediated export of DNA in Parkinson disease

The paper shows that oxidative stress causes micronuclear collapse in Parkinson's fibroblasts, leading to DNA export via amphisomes and pro-inflammatory EVs, which can be mitigated by a mitochondria-targeted antioxidant.

PINK1 regulates cholesterol homeostasis via SCAP phosphorylation in human dopaminergic neurons

This study shows that PINK1 regulates cholesterol homeostasis in human dopaminergic neurons by phosphorylating SCAP, and restoring cholesterol levels rescues defects in neurotransmitter uptake.

Impaired neurogenesis and synaptogenesis in iPSC-derived Parkinson's patient cortical neurons with D620N VPS35 mutation

This study shows that the VPS35-D620N mutation impairs neurogenesis and synaptogenesis in iPSC-derived Parkinson's neurons, leading to synaptic dysfunction.

Parkinson’s disease phenotypes in patient specific brain organoids are improved by HP-β-CD treatment

This study shows that HP-β-CD treatment improves dopaminergic differentiation in PD patient-derived midbrain organoids by enhancing mitophagy.

Inhibition of Lipin lipid phosphatase hyperactivity rescues TorsinA neurological disease

The paper shows that inhibiting Lipin lipid phosphatase activity rescues neurological symptoms in TorsinA disease models.