Molecular genetics of Parkinson's disease: Contributions and global trends

M Funayama, K Nishioka, Y Li, N Hattori - Journal of human genetics, 2023 - nature.com
Parkinson's disease (PD) is a neurodegenerative disorder primarily characterized by motor
dysfunction. Aging is the greatest risk factor for developing PD. Recent molecular genetic …

Lipids, lysosomes and mitochondria: insights into Lewy body formation from rare monogenic disorders

D Erskine, D Koss, VI Korolchuk, TF Outeiro… - Acta …, 2021 - Springer
Accumulation of the protein α-synuclein into insoluble intracellular deposits termed Lewy
bodies (LBs) is the characteristic neuropathological feature of LB diseases, such as …

Genetic landscape of Parkinson's disease and related diseases in Luxembourg

Z Landoulsi, S Pachchek, DR Bobbili… - Frontiers in Aging …, 2023 - frontiersin.org
Objectives To explore the genetic architecture of PD in the Luxembourg Parkinson's Study
including cohorts of healthy people and patients with Parkinson's disease (PD) and atypical …

Genotype-phenotype correlation of Parkinson's disease with PRKN variants

H Yoshino, Y Li, K Nishioka, K Daida, A Hayashida… - Neurobiology of …, 2022 - Elsevier
To investigate the prevalence and genotype-phenotype correlations of parkin RBR E3
ubiquitin protein ligase (PRKN) variants in Parkinson's disease (PD), we first included 2,527 …

Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson's disease

T Tezuka, D Taniguchi, M Sano, T Shimada… - npj Parkinson's …, 2022 - nature.com
Missense variants in leucine-rich repeat kinase 2 (LRRK2) lead to familial and sporadic
Parkinson's disease (PD). The pathological features of PD patients with LRRK2 variants …

Systematic Functional Analysis of PINK1 and PRKN Coding Variants

BJ Broadway, PK Boneski, JM Bredenberg… - Cells, 2022 - mdpi.com
Loss of either PINK1 or PRKN causes an early onset Parkinson's disease (PD) phenotype.
Functionally, PINK1 and PRKN work together to mediate stress-activated mitochondrial …

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review

C Koros, A Bougea, AM Simitsi, N Papagiannakis… - Genes, 2023 - mdpi.com
Introduction: There has been a bias in the existing literature on Parkinson's disease (PD)
genetics as most studies involved patients of European ancestry, mostly in Europe and …

History of Parkinson's Disease-Associated Gene, Parkin: Research over a Quarter Century in Quest of Finding the Physiological Substrate

T Kitada, MT Ardah, ME Haque - International journal of molecular …, 2023 - mdpi.com
Parkin, the gene responsible for hereditary Parkinson's disease (PD) called “Autosomal
Recessive Juvenile Parkinsonism (AR-JP)” was discovered a quarter of a century ago …

Aging accelerates locomotor decline in PINK1 knockout rats in association with decreased nigral, but not striatal, dopamine and tyrosine hydroxylase expression

I Soto, R McManus, W Navarrete, EA Kasanga… - Experimental …, 2024 - Elsevier
Parkinson's disease (PD) rodent models provide insight into the relationship between
nigrostriatal dopamine (DA) signaling and locomotor function. Although toxin-based rat …

Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study

ECA Caritativo, JRT Yu, JMP Bautista… - Parkinsonism & Related …, 2023 - Elsevier
Introduction Although genetic factors are known to play a role in the pathogenesis of
Parkinson's disease (PD), true prevalence of familial PD is unknown. We conducted this pilot …