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 …
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 …
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 …
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 …
basis for Parkinson's disease (PD). Notably, whereas most mutations, such as those in …
QSER1 protects DNA methylation valleys from de novo methylation
INTRODUCTION DNA methylation is essential to mammalian development, and
dysregulation can cause serious pathological conditions, including immunodeficiency …
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 …
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 …
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 …
biomarkers are needed. Because protein structure reflects function, we tested whether …
Axonal endoplasmic reticulum dynamics and its roles in neurodegeneration
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 …
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 …
disorders such as Parkinson's disease (PD) is attributable to multifactorial changes …