LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients

D Ysselstein, M Nguyen, TJ Young, A Severino… - Nature …, 2019 - nature.com
Mutations in LRRK2 and GBA1 are common genetic risk factors for Parkinson's disease (PD)
and major efforts are underway to develop new therapeutics that target LRRK2 or …

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

P Saffie Awad, D Teixeira‐dos‐Santos… - Movement …, 2024 - Wiley Online Library
Background Identifying hereditary parkinsonism is valuable for diagnosis, genetic
counseling, patient prioritization in trials, and studying the disease for personalized …

Urinary proteome profiling for stratifying patients with familial Parkinson's disease

S Virreira Winter, O Karayel, MT Strauss… - EMBO molecular …, 2021 - embopress.org
The prevalence of Parkinson's disease (PD) is increasing but the development of novel
treatment strategies and therapeutics altering the course of the disease would benefit from …

Identification of sixteen novel candidate genes for late onset Parkinson's disease

A Gialluisi, MG Reccia, N Modugno, T Nutile… - Molecular …, 2021 - Springer
Background Parkinson's disease (PD) is a neurodegenerative movement disorder affecting
1–5% of the general population for which neither effective cure nor early diagnostic tools are …

Targeting of lysosomal pathway genes for Parkinson's disease modification: insights from cellular and animal models

T Abe, T Kuwahara - Frontiers in Neurology, 2021 - frontiersin.org
Previous genetic studies on hereditary Parkinson's disease (PD) have identified a set of
pathogenic gene mutations that have strong impacts on the pathogenicity of PD. In addition …

LRRK2 deficiency impacts ceramide metabolism in brain

R Ferrazza, S Cogo, H Melrose, L Bubacco… - Biochemical and …, 2016 - Elsevier
Mutations in LRRK2 gene cause inherited Parkinson's disease (PD) and variations around
LRRK2 act as risk factor for disease. Similar to sporadic disease, LRRK2-linked cases show …

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease

BA Benitez, AA Davis, SC Jin, L Ibanez… - Molecular …, 2016 - Springer
Background Most sequencing studies in Parkinson's disease (PD) have focused on either a
particular gene, primarily in familial and early onset PD samples, or on screening single …

[HTML][HTML] Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms

BL Santos-Lobato… - Arquivos de Neuro …, 2021 - thieme-connect.com
Background: Increasing numbers of mutations causing monogenic forms of Parkinson's
disease (PD) have been described, mostly among patients in Europe and North America …

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease

CP da Silva, GM Abreu, PHC Acero, MC Júnior… - Journal of the …, 2017 - Elsevier
Background Parkinson's disease (PD) is a neurodegenerative disorder characterized by
remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD …

GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights

T Szlepák, AP Kossev, D Csabán, A Illés, S Udvari… - Neurological …, 2024 - Springer
Introduction Parkinson's disease (PD) has a complex genetic background involving both
rare and common genetic variants. Although a small percentage of cases show a clear …