The genetics of Parkinson's disease and implications for clinical practice

JO Day, S Mullin - Genes, 2021 - mdpi.com
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

Mitochondrial-derived vesicles in metabolism, disease, and aging

T König, HM McBride - Cell Metabolism, 2024 - cell.com
Mitochondria are central hubs of cellular metabolism and are tightly connected to signaling
pathways. The dynamic plasticity of mitochondria to fuse, divide, and contact other …

Mitochondrial membrane proteins and VPS35 orchestrate selective removal of mtDNA

A Sen, S Kallabis, F Gaedke, C Jüngst, J Boix… - Nature …, 2022 - nature.com
Understanding the mechanisms governing selective turnover of mutation-bearing mtDNA is
fundamental to design therapeutic strategies against mtDNA diseases. Here, we show that …

Insights into the pathogenesis of neurodegenerative diseases: Focus on mitochondrial dysfunction and oxidative stress

A Jurcau - International journal of molecular sciences, 2021 - mdpi.com
As the population ages, the incidence of neurodegenerative diseases is increasing. Due to
intensive research, important steps in the elucidation of pathogenetic cascades have been …

The cell biology of LRRK2 in Parkinson's disease

A Usmani, F Shavarebi, A Hiniker - Molecular and Cellular Biology, 2021 - Am Soc Microbiol
Point mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of
familial Parkinson's disease (PD) and are implicated in a significant proportion of apparently …

[HTML][HTML] Boosting mitochondrial health to counteract neurodegeneration

J Burtscher, M Romani, G Bernardo, T Popa… - Progress in …, 2022 - Elsevier
Mitochondrial health is based on a delicate balance of specific mitochondrial functions (eg
metabolism, signaling, dynamics) that are impaired in neurodegenerative diseases …

Key genes and convergent pathogenic mechanisms in Parkinson disease

R Coukos, D Krainc - Nature Reviews Neuroscience, 2024 - nature.com
Parkinson disease (PD) is a neurodegenerative disorder marked by the preferential
dysfunction and death of dopaminergic neurons in the substantia nigra. The onset and …

Parkinson's disease–associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy

KY Ma, MR Fokkens, F Reggiori, M Mari… - Translational …, 2021 - Springer
Background Mitochondrial dysfunction plays a prominent role in the pathogenesis of
Parkinson's disease (PD), and several genes linked to familial PD, including PINK1 …

Parkinson's disease and mitophagy: an emerging role for LRRK2

F Singh, IG Ganley - Biochemical Society Transactions, 2021 - portlandpress.com
Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects around
2% of individuals over 60 years old. It is characterised by the loss of dopaminergic neurons …

Genetic evidence for endolysosomal dysfunction in Parkinson's disease: a critical overview

V Yahya, A Di Fonzo, E Monfrini - International Journal of Molecular …, 2023 - mdpi.com
Parkinson's disease (PD) is the second most common neurodegenerative disorder in the
aging population, and no disease-modifying therapy has been approved to date. The …