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 …

The link between the GBA gene and parkinsonism

E Sidransky, G Lopez - The Lancet Neurology, 2012 - thelancet.com
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that
is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif… - autophagy, 2021 - Taylor & Francis
In 2008, we published the first set of guidelines for standardizing research in autophagy.
Since then, this topic has received increasing attention, and many scientists have entered …

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations

RN Alcalay, OA Levy, CH Waters, S Fahn, B Ford… - Brain, 2015 - academic.oup.com
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in
numerous studies. However, it is unknown whether the increased risk of Parkinson's disease …

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease

E Sidransky, MA Nalls, JO Aasly… - … England Journal of …, 2009 - Mass Medical Soc
Background Recent studies indicate an increased frequency of mutations in the gene
encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease …

Genetic risk factors in Parkinson's disease

KJ Billingsley, S Bandres-Ciga, S Saez-Atienzar… - Cell and tissue …, 2018 - Springer
Over the last two decades, we have witnessed a revolution in the field of Parkinson's
disease (PD) genetics. Great advances have been made in identifying many loci that confer …

EFNS/MDS‐ES recommendations for the diagnosis of P arkinson's disease

A Berardelli, GK Wenning, A Antonini… - European journal of …, 2013 - Wiley Online Library
Background A Task Force was convened by the EFNS/MDS‐ES Scientist Panel on P
arkinson's disease (PD) and other movement disorders to systemically review relevant …

The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson's disease

SYY Pang, PWL Ho, HF Liu, CT Leung, L Li… - Translational …, 2019 - Springer
Background Parkinson's disease (PD) is characterized by dopaminergic neuronal loss in the
substantia nigra pars compacta and intracellular inclusions called Lewy bodies (LB). During …

Classification of GBA1 Variants in Parkinson's Disease: The GBA1‐PD Browser

SC Parlar, FP Grenn, JJ Kim… - Movement …, 2023 - Wiley Online Library
Background GBA1 variants are among the most common genetic risk factors for Parkinson's
disease (PD). GBA1 variants can be classified into three categories based on their role in …

Differential effects of severe vs mild GBA mutations on Parkinson disease

Z Gan-Or, I Amshalom, LL Kilarski, A Bar-Shira… - Neurology, 2015 - AAN Enterprises
Objective: To better define the genotype-phenotype correlations between the type of GBA
(glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and …