[HTML][HTML] Tauopathies: new perspectives and challenges

Y Zhang, KM Wu, L Yang, Q Dong, JT Yu - Molecular neurodegeneration, 2022 - Springer
Background Tauopathies are a class of neurodegenerative disorders characterized by
neuronal and/or glial tau-positive inclusions. Main body Clinically, tauopathies can present …

[HTML][HTML] The complex genetic architecture of Alzheimer's disease: novel insights and future directions

SJ Andrews, AE Renton, B Fulton-Howard… - …, 2023 - thelancet.com
Background Alzheimer's disease (AD) is a complex multifactorial neurodegenerative
disorder and the most common form of dementia. AD is highly heritable, with heritability …

[HTML][HTML] New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

[HTML][HTML] Single-cell genomic profiling of human dopamine neurons identifies a population that selectively degenerates in Parkinson's disease

T Kamath, A Abdulraouf, SJ Burris, J Langlieb… - Nature …, 2022 - nature.com
The loss of dopamine (DA) neurons within the substantia nigra pars compacta (SNpc) is a
defining pathological hallmark of Parkinson's disease (PD). Nevertheless, the molecular …

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

Mapping the proteo-genomic convergence of human diseases

M Pietzner, E Wheeler, J Carrasco-Zanini, A Cortes… - Science, 2021 - science.org
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …

[HTML][HTML] A compendium of uniformly processed human gene expression and splicing quantitative trait loci

N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

[HTML][HTML] hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data

S Morabito, F Reese, N Rahimzadeh, E Miyoshi… - Cell reports …, 2023 - cell.com
Biological systems are immensely complex, organized into a multi-scale hierarchy of
functional units based on tightly regulated interactions between distinct molecules, cells …

[HTML][HTML] Alzheimer's disease: an updated overview of its genetics

J Andrade-Guerrero, A Santiago-Balmaseda… - International journal of …, 2023 - mdpi.com
Alzheimer's disease (AD) is the most common neurodegenerative disease in the world. It is
classified as familial and sporadic. The dominant familial or autosomal presentation …