María Victoria Fernández

Genomics link obesity and type 2 diabetes to Alzheimers disease to unveil novel biological insights

This study links obesity and type 2 diabetes to Alzheimer's disease through genetic and transcriptomic analyses, identifying shared pathways and potential drug targets.

Long-read sequencing reveals two common APOE ϵ3 and ϵ4 intragenic haplotypes in the Spanish population

The paper uses long-read sequencing to identify and characterize APOE haplotypes in a Spanish cohort, finding associations between specific haplotypes and reduced risk of Alzheimer's disease progression.

Genetic dissection of hippocampal sclerosis of ageing using magnetic resonance imaging surrogates

The paper investigates the association between Alzheimer's disease SNPs and hippocampal sclerosis of aging using MRI surrogates in a cohort of non-demented individuals.

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Leveraging large multi-center cohorts of Alzheimer Disease endophenotypes to understand the role of Klotho heterozygosity on disease risk

This study investigates the association between Klotho heterozygosity and Alzheimer's disease risk in APOE4 carriers using multiple AD endophenotypes from large cohorts.

Circular RNA detection identifies circPSEN1 alterations in brain specific to Autosomal Dominant Alzheimer Disease

This study identifies increased circPSEN1 levels in ADAD brains compared to sporadic AD and controls, suggesting a potential role in neuroinflammatory processes.

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer disease brains

This study identifies metabolomic and lipidomic signatures in Alzheimer's disease brains with different genetic risk factors and finds associations with disease subtypes and progression.

Genomic and multi-tissue proteomic integration for understanding the biology of disease and other complex traits

The paper integrates genomic and proteomic data across multiple tissues to identify protein quantitative loci (pQTL) and their implications for neurodegenerative diseases.

Autosomal Recessive Alzheimer disease (arAD): homozygosity mapping of genomic regions containing arAD loci

This study identifies increased homozygosity in Alzheimer's disease cases and detects a candidate recessive variant associated with amyloid metabolism.

A single- nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

This study uses single-nuclei RNA-seq to compare cell proportions and gene expression in Mendelian and sporadic AD brains, identifying reduced excitatory neurons in a Mendelian carrier and proposing best practices for analysis.

The TMEM106B rs1990621 protective variant is also associated with increased neuronal proportion

The paper identifies a genetic variant in TMEM106B associated with increased neuronal proportion in neurodegenerative and cognitive normal cohorts, suggesting a role in neuronal protection.

Evaluation of gene-based family-based methods to detect novel genes associated with familial late onset Alzheimer disease

This study evaluates gene-based methods for family-based analyses of familial late-onset Alzheimer disease, identifying novel candidate genes.

Polygenic Risk Score of Sporadic Late Onset Alzheimer Disease Reveals a Shared Architecture with the Familial and Early Onset Forms

The paper constructs polygenic risk scores for sporadic late-onset Alzheimer's Disease and finds shared genetic architecture with familial and early-onset forms, showing varying odds ratios across cohorts.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.