Publications by authors named "Alexandra Beasley"
Aggregated α-synuclein (α-SYN) proteins, encoded by the gene, are hallmarks of Lewy body disease (LBD), affecting multiple brain regions. However, the specific mechanisms underlying α-SYN pathology in cortical neurons, crucial for LBD-associated dementia, remain unclear. Here, we recapitulated α-SYN pathologies in human induced pluripotent stem cells (iPSCs)-derived cortical organoids generated from patients with LBD with gene triplication.
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- - The study investigated the relationship between GBA gene variants and neuropathological features in cases of Lewy body disease (LBD), finding that both rare and common GBA variants are linked to conditions like Parkinson's disease and dementia with Lewy bodies.
- - Out of 943 LBD cases, researchers identified 42 different GBA variants; the presence of minor alleles for these variants was associated with higher odds of likely dementia and lower stages of key neuropathological markers like Braak neurofibrillary tangles and Thal amyloid levels.
- - GBA variants were especially prevalent in cases of transitional/diffuse LBD with low Alzheimer's disease-related pathology, suggesting that these genetic factors could influence the severity and
Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes.
Parkinsonism Relat Disord
February 2024
Introduction: Substantial heterogeneity between individual patients in the clinical presentation of Parkinson's disease (PD) has led to the classification of distinct PD subtypes. However, genetic susceptibility factors for specific PD subtypes are not well understood. Therefore, the present study aimed to investigate the genetics of PD heterogeneity by performing a genome-wide association study (GWAS) of PD subtypes.
View Article and Find Full Text PDFProper nervous system development is required for an organism's survival and function. Defects in neurogenesis have been linked to neurodevelopmental disorders such as schizophrenia and autism. Understanding the gene regulatory networks that orchestrate neural development, specifically cascades of proneural transcription factors, can better elucidate which genes are most important during early neurogenesis.
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