Roy N. Alcalay

GALC variants affect Glucocerebrosidase to Galactosylceramidase activity ratio

The paper examines how genetic variants in GALC affect the ratio of glucocerebrosidase to galactosylceramidase activity and its association with Parkinson's disease risk.

Multi-ancestry analysis of POLG variants in Parkinson's disease

This study analyzes POLG variants in Parkinson's disease across multiple ancestries and finds rare pathogenic variants in some cases, suggesting potential contributions to PD in isolated instances.

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

Change in movement disorder specialist attitudes to genetic testing after implementation of PD GENEration

A survey found increased comfort and willingness among movement disorder specialists to order genetic testing for Parkinson's disease after the implementation of PD GENEration.

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

T cell responses towards PINK1 and α-synuclein are elevated in prodromal Parkinson's disease

The paper examines T cell responses to PINK1 and α-synuclein in prodromal Parkinson's disease, finding elevated reactivity comparable to clinically diagnosed PD.

Differential memory enrichment of cytotoxic CD4 T cells in Parkinson's disease patients reactive to α-synuclein

The paper investigates T cell subsets in Parkinson's disease patients reactive to α-synuclein, finding reduced Granulysin+ CD4 cytotoxic TEM cells and altered CELSR2 expression.

Genome-wide association study of glucocerebrosidase activity modifiers.

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

Lack of association between G6PD variants and Parkinson's disease

This study investigates the association between G6PD variants and Parkinson's disease across six cohorts and finds no significant links for common or rare variants.

A factor-based analysis of individual human microglia uncovers regulators of an Alzheimer-related transcriptional signature

The paper uses single-cell data to identify factors regulating an Alzheimer's disease-related microglial signature and proposes a new analytic framework for microglial classification.

Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson's disease pathogenesis.

The paper investigates the role of ATP10D and GlcCer in Parkinson's disease, finding ATP10D regulates plasma GlcCer levels but is not involved in PD pathogenesis.

Global Perspectives on Returning Genetic Research Results in Parkinson's Disease

This paper surveys global perspectives on returning genetic research results in Parkinson's disease, finding disparities in access, training, and policy practices across countries.

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

This study investigates the role of cathepsin B in Parkinson's disease by analyzing genetic variants and manipulating catB function in cell models to assess its impact on lysosomal activity and alpha-synuclein clearance.

Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

This study investigates the association between rare SYNJ1 variants and Parkinson's disease, finding an association with both sporadic and early-onset cases.

Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson's disease

The paper identifies rare SMPD1 variants in Asian populations that increase Parkinson's disease risk through exome sequencing and functional assays.

RNA- and ATAC-sequencing Reveals a Unique CD83+ Microglial Population Focally Depleted in Parkinson's Disease

The paper uses single-nucleus RNA- and ATAC-sequencing to identify a CD83+ microglial subpopulation depleted in Parkinson's disease, with implications for neuronal vulnerability.

A potential patient stratification biomarker for Parkinson's disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells

Peripheral blood-derived cells can be employed to stratify Parkinson's disease patients most likely to respond to LRRK2-related therapeutics.

Polygenic Parkinson's disease genetic risk score as risk modifier of parkinsonism in Gaucher disease

The paper examines how a polygenic Parkinson's disease genetic risk score modifies the risk of parkinsonism in Gaucher disease patients.

The activities of LRRK2 and GCase are positively correlated in clinical biospecimens and experimental models of Parkinson's disease

The paper investigates the relationship between LRRK2 and GCase activities in Parkinson's disease models and biospecimens, finding a positive correlation.

Distinct profiles of LRRK2 activation and Rab GTPase phosphorylation in clinical samples from different PD cohorts

The paper identifies distinct phosphorylation patterns of LRRK2 and Rab GTPases in different Parkinson's disease cohorts, highlighting the need for multiple targets in pharmacodynamic assessments.

A cross-disease human microglial framework identifies disease-enriched subsets and tool compounds for microglial polarization.

This study identifies disease-enriched microglial subsets and validates compounds that modulate their states using single-cell RNA sequencing and in vitro experiments.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

Urinary proteome profiling for stratifying patients with familial Parkinsons disease

This study uses urinary proteomics and machine learning to identify biomarkers for stratifying Parkinson's disease patients and LRRK2 mutation carriers.

Association of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's Disease

This study sequenced five genes in PD patients and controls, finding no significant association with Parkinson's Disease after multiple comparisons.

Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinsons disease

The paper examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson disease

The paper examines genetic associations of saposins A, B, C, and D with Parkinson's disease using SKAT-O and GWAS analyses, finding no significant associations.

An assessment of LRRK2 serine 935 phosphorylation in human peripheral blood mononuclear cells in idiopathic Parkinson’s disease and G2019S LRRK2 cohorts

The paper assesses pS935 LRRK2 levels in PBMCs of iPD and G2019S LRRK2 carriers, finding reduced levels in G2019S carriers with PD compared to those without PD or iPD.

Analysis of common and rare VPS13C variants in late onset Parkinson disease

The paper investigates the role of VPS13C variants in late-onset Parkinson disease, finding no significant association with rare variants but a nominal association with a haplotype.