Anthony H.V. Schapira

The paper introduces a novel mouse model of Parkinson's disease using a modified viral vector to induce pigmentation and pathological features associated with the disease.

VACmap improves detection of complex genomic rearrangements like inversions and duplications, which are critical for understanding diseases such as cardiovascular disease and Parkinson's disease.

This study investigates whether GBA1 heterozygosity affects gut microbiome composition in a mouse model, finding no significant differences between genotypes.

This study shows that PIKfyve inhibition reduces alpha-synuclein aggregates in a Parkinson's disease model by enhancing lysosomal biogenesis through TFEB activation.

This study shows that GBA1 mutations increase mitochondrial oxidative stress, leading to alpha-synuclein aggregation and spreading in a mouse model of Parkinson's disease.

This study shows that simulated microgravity accelerates alpha-synuclein aggregation and oxidative stress in Parkinson's disease cell models, mimicking aging-related stress.

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

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

The paper investigates sex-specific microglial responses to glucocerebrosidase inhibition and links these responses to GBA1-linked Parkinson disease.

This study shows bacterial ligands and metabolites increase α-synuclein levels in gut enteroendocrine cells, potentially contributing to Parkinson's disease pathology.

This study shows that the GBA E326K variant increases alpha-synuclein aggregation and lipid droplet accumulation in human cells without reducing GCase activity.

The paper presents two methods to accurately detect GBA variants and reciprocal recombinants, showing higher GBA variant frequency in Lewy body dementia compared to Parkinson's disease.

The paper investigates the additive effect of genetic risk variants for Parkinson's disease and finds an unexpected rescue effect on neuronal function and survival in zebrafish with combined GCase and ASM deficiency.

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.

The paper shows DNA isolation methods affect array CGH, ddPCR, and whole genome sequencing results in human brain tissue, with protocol-dependent biases in GC coverage and mtDNA copy number.