Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance

DG Hernandez, X Reed… - Journal of …, 2016 - Wiley Online Library
Parkinson's disease is a common, progressive neurodegenerative disorder, affecting 3% of
those older than 75 years of age. Clinically, Parkinson's disease (PD) is associated with …

Neuropathology of genetic synucleinopathies with parkinsonism: review of the literature

SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's
disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …

Mitochondrial ROS promotes susceptibility to infection via gasdermin D-mediated necroptosis

CG Weindel, EL Martinez, X Zhao, CJ Mabry, SL Bell… - Cell, 2022 - cell.com
Although mutations in mitochondrial-associated genes are linked to inflammation and
susceptibility to infection, their mechanistic contributions to immune outcomes remain ill …

Preclinical and clinical evaluation of the LRRK2 inhibitor DNL201 for Parkinson's disease

D Jennings, S Huntwork-Rodriguez, AG Henry… - Science translational …, 2022 - science.org
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic risk factors
for Parkinson's disease (PD). Increased LRRK2 kinase activity is thought to impair lysosomal …

Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases

M Steger, F Tonelli, G Ito, P Davies, M Trost, M Vetter… - elife, 2016 - elifesciences.org
Mutations in Park8, encoding for the multidomain Leucine-rich repeat kinase 2 (LRRK2)
protein, comprise the predominant genetic cause of Parkinson's disease (PD). G2019S, the …

Olfactory dysfunction in Parkinson disease

RL Doty - Nature Reviews Neurology, 2012 - nature.com
Olfactory dysfunction is among the earliest nonmotor features of Parkinson disease (PD).
Such dysfunction is present in approximately 90% of early-stage PD cases and can precede …

What genetics tells us about the causes and mechanisms of Parkinson's disease

O Corti, S Lesage, A Brice - Physiological reviews, 2011 - journals.physiology.org
Parkinson's disease (PD) is a common motor disorder of mysterious etiology. It is due to the
progressive degeneration of the dopaminergic neurons of the substantia nigra and is …

Parkinson's disease: genetics and pathogenesis

JM Shulman, PL De Jager… - Annual Review of …, 2011 - annualreviews.org
Recent investigation into the mechanisms of Parkinson's disease (PD) has generated
remarkable insight while simultaneously challenging traditional conceptual frameworks …

Parkinson's disease: from monogenic forms to genetic susceptibility factors

S Lesage, A Brice - Human molecular genetics, 2009 - academic.oup.com
Research in Parkinson's disease (PD) genetics has been extremely prolific over the past
decade. More than 13 loci and 9 genes have been identified, but their implication in PD is …

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells

J Tran, H Anastacio, C Bardy - NPJ Parkinson's disease, 2020 - nature.com
Parkinson's disease (PD) is the second most prevalent neurological disorder and has been
the focus of intense investigations to understand its etiology and progression, but it still lacks …