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 …

Autophagic lysosome reformation in health and disease

R Nanayakkara, R Gurung, SJ Rodgers, MJ Eramo… - Autophagy, 2023 - Taylor & Francis
Lysosomes are the primary degradative compartment within cells and there have been
significant advances over the past decade toward understanding how lysosome …

Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms

C Blauwendraat, K Heilbron, CL Vallerga… - Movement …, 2019 - Wiley Online Library
Background Increasing evidence supports an extensive and complex genetic contribution to
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …

The genetics of P arkinson's disease: Progress and therapeutic implications

AB Singleton, MJ Farrer, V Bonifati - Movement Disorders, 2013 - Wiley Online Library
The past 15 years has witnessed tremendous progress in our understanding of the genetic
basis for Parkinson's disease (PD). Notably, whereas most mutations, such as those in …

QSER1 protects DNA methylation valleys from de novo methylation

G Dixon, H Pan, D Yang, BP Rosen, T Jashari… - Science, 2021 - science.org
INTRODUCTION DNA methylation is essential to mammalian development, and
dysregulation can cause serious pathological conditions, including immunodeficiency …

α-Synuclein: membrane interactions and toxicity in Parkinson's disease

PK Auluck, G Caraveo… - Annual review of cell and …, 2010 - annualreviews.org
In the late 1990s, mutations in the synaptic protein α-synuclein (α-syn) were identified in
families with hereditary Parkinson's disease (PD). Rapidly, α-syn became the target of …

[HTML][HTML] Pathways to neurodegeneration: mechanistic insights from GWAS in Alzheimer's disease, Parkinson's disease, and related disorders

VK Ramanan, AJ Saykin - American journal of neurodegenerative …, 2013 - ncbi.nlm.nih.gov
The discovery of causative genetic mutations in affected family members has historically
dominated our understanding of neurodegenerative diseases such as Alzheimer's disease …

Global, in situ analysis of the structural proteome in individuals with Parkinson's disease to identify a new class of biomarker

MT Mackmull, L Nagel, F Sesterhenn… - Nature structural & …, 2022 - nature.com
Parkinson's disease (PD) is a prevalent neurodegenerative disease for which robust
biomarkers are needed. Because protein structure reflects function, we tested whether …

Axonal endoplasmic reticulum dynamics and its roles in neurodegeneration

Z Öztürk, CJ O'Kane, JJ Pérez-Moreno - Frontiers in neuroscience, 2020 - frontiersin.org
The physical continuity of axons over long cellular distances poses challenges for their
maintenance. One organelle that faces this challenge is endoplasmic reticulum (ER); unlike …

Gut vibes in Parkinson's disease: the microbiota‐gut‐brain axis

C Bullich, A Keshavarzian, J Garssen… - Movement disorders …, 2019 - Wiley Online Library
Background The complexity of the pathogenic mechanisms underlying neurodegenerative
disorders such as Parkinson's disease (PD) is attributable to multifactorial changes …