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 develo** PD. Recent molecular genetic …

[HTML][HTML] Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

C Simpson, L Vinikoor-Imler, FL Nassan… - Parkinsonism & Related …, 2022 - Elsevier
Introduction Variants in the leucine-rich repeat kinase 2 gene (LRRK2) are risk factors for
Parkinson's disease (PD), but their prevalence varies geographically, reflecting the locations …

Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic

SY Lim, AH Tan, A Ahmad-Annuar… - The Lancet …, 2024 - thelancet.com
Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the
discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the …

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 …

Structural insights and development of LRRK2 inhibitors for Parkinson's disease in the last decade

G Thakur, V Kumar, KW Lee, C Won - Genes, 2022 - mdpi.com
Parkinson's disease (PD) is the second most prevalent neurodegenerative disease,
characterized by the specific loss of dopaminergic neurons in the midbrain. The …

Overview of the impact of pathogenic LRRK2 mutations in Parkinson's Disease

G Ito, N Utsunomiya-Tate - Biomolecules, 2023 - mdpi.com
Leucine-rich repeat kinase 2 (LRRK2) is a large protein kinase that physiologically
phosphorylates and regulates the function of several Rab proteins. LRRK2 is genetically …

Review of the epidemiology and variability of LRRK2 non-p. Gly2019Ser pathogenic mutations in Parkinson's disease

P Turski, I Chaberska, P Szukało, P Pyska… - Frontiers in …, 2022 - frontiersin.org
Parkinson's disease (PD) is a heterogenous neurodegenerative disorder. Genetic factors
play a significant role, especially in early onset and familial cases. Mutations are usually …

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 …

Genetic movement disorders commonly seen in Asians

P Jagota, SY Lim, PK Pal, JY Lee… - Movement Disorders …, 2023 - Wiley Online Library
The increasing availability of molecular genetic testing has changed the landscape of both
genetic research and clinical practice. Not only is the pace of discovery of novel disease …