Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

E Yu, U Rudakou, L Krohn, K Mufti… - Movement …, 2021 - Wiley Online Library
Background Biallelic PRKN mutation carriers with Parkinson's disease (PD) typically have
an earlier disease onset, slow disease progression, and, often, different neuropathology …

A Biomarker Study in Patients with GBA1‐Parkinson's Disease and Healthy Controls

JM den Heijer, VC Cullen, DR Pereira… - Movement …, 2023 - Wiley Online Library
Background Molecules related to glucocerebrosidase (GCase) are potential biomarkers for
development of compounds targeting GBA1‐associated Parkinson's disease (GBA‐PD) …

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

U Rudakou, E Yu, L Krohn, JA Ruskey, F Asayesh… - Brain, 2021 - academic.oup.com
Genome-wide association studies (GWAS) have identified numerous loci associated with
Parkinson's disease. The specific genes and variants that drive the associations within the …

Age at onset of Parkinson's disease among Ashkenazi Jewish patients: contribution of environmental factors, LRRK2 p. G2019S and GBA p. N370S mutations

G Yahalom, A Rigbi, S Israeli-Korn… - Journal of …, 2020 - content.iospress.com
Background: Both genetic and environmental factors contribute to Parkinson's disease (PD)
risk. Objective: We investigated the potential association of several relevant variables with …

A Phase 1B Trial in GBA1‐Associated Parkinson's Disease of BIA‐28‐6156, a Glucocerebrosidase Activator

JM den Heijer, AC Kruithof, M Moerland… - Movement …, 2023 - Wiley Online Library
Background Loss‐of‐function mutations in the GBA1 gene are one of the most common
genetic risk factors for onset of Parkinson's disease and subsequent progression (GBA‐PD) …

Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?

O Goldstein, M Gana-Weisz, D Cohen-Avinoam… - Molecular Genetics and …, 2019 - Elsevier
Background GBA variants are the most common genetic risk factors for Parkinson's disease
(PD) world-wide, and can be found in up to 20% of Ashkenazi PD patients. The E326K …

[HTML][HTML] Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

EG Woo, N Tayebi, E Sidransky - Frontiers in genetics, 2021 - frontiersin.org
Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by
pathologic variants in GBA1, the gene encoding the enzyme glucocerebrosidase. Deficiency …

Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia

L Honeycutt, JY Montplaisir, JF Gagnon… - Parkinsonism & related …, 2019 - Elsevier
Background Mutations in the glucocerebrosidase (GBA) gene are strongly associated with
REM sleep behavior disorder (RBD). It is unclear whether GBA mutations might affect …

Current and emerging therapeutic targets for Parkinson's disease

T Pingale, GL Gupta - Metabolic Brain Disease, 2021 - Springer
Parkinson's disease (PD) is characterized by gradual neurodegeneration and forfeiture of
dopamine neurons in substantia nigra pars compacta which ultimately leads to depletion of …

[HTML][HTML] The effect of GBA mutations and APOE polymorphisms on dementia with Lewy bodies in Ashkenazi Jews

T Shiner, A Mirelman, Y Rosenblum… - Journal of …, 2021 - content.iospress.com
Background: Glucocerebrosidase (GBA) gene mutations and APOE polymorphisms are
common in dementia with Lewy bodies (DLB), however their clinical impact is only partially …