It is suggested that integrating disease-state transcriptomics with genetic prioritization can refine PD risk-gene nomination and uncover regulatory programs that may be missed by GWAS alone.
A brain cell type-resolved genetic prioritization framework for AD is provided, nominating genetically supported candidate druggable targets and linking them to neurodegenerative and immune-related pathways.
Ren-Jun Huang, Li-Qing Guan, Yang Chen et al.· Journal of Alzheimer's Disea...· 0 citations
The first pathway resolved South Asian genetic profile and a framework for comparative studies across populations are provided, with different contributions from P/LP-associated and VUS associated gene sets.
R. Menon, A. I. Khan, D. Elangovan et al.· medRxiv· 0 citations
BACKGROUND
Mitochondrial dysfunction has been implicated in Parkinson's disease (PD), but the genetically regulated mitochondrial genes associated with PD risk remain incompletely defined.
METHODS
We conducted a summary-data-based genetic epidemiology study integrating summary-based Mendelian randomization (SMR), Het...
Yu-Sheng Zhu, Zihan Ye· Clinical neurology and neuro...· 0 citations
Combining discovery-validation transcriptomics, causal inference, and experimental validation, it is found that RGS1 is a potential immunomodulatory target in AD.
Z. Cheng, Ruyu Bai, Yong Diao· Current Issues in Molecular...· 0 citations
Astrocytic upregulation of HSP90AA1 is associated with altered synapse-related intercellular communication patterns in the PD substantia nigra, potentially involving a predicted TP53 associated regulatory component.
Yi-Yuan Xu, Yanfeng Shi, Yan Li et al.· International Journal of Mol...· 0 citations
By combining large-scale plasma proteomic genetics with single-cell mapping and experimental validation, this study identifies a prioritized set of candidate causal proteins linking neuroimmune activation, vascular remodeling, and mitochondrial bioenergetics in AMD, providing candidate entry points for mechanistic and...
Lei Wen, Fang-Ran Li, Yuan Liu et al.· International Journal of Mol...· 0 citations
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