The multiplex model of the genetics of Alzheimer's disease

R Sims, M Hill, J Williams - Nature neuroscience, 2020 - nature.com
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …

Microglial efferocytosis: diving into the Alzheimer's disease gene pool

C Romero-Molina, F Garretti, SJ Andrews, E Marcora… - Neuron, 2022 - cell.com
Genome-wide association studies and functional genomics studies have linked specific cell
types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles …

Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes

G Novikova, M Kapoor, J Tcw, EM Abud… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified more than 40 loci associated with
Alzheimer's disease (AD), but the causal variants, regulatory elements, genes and pathways …

Microglial phagocytosis: a disease-associated process emerging from Alzheimer's disease genetics

A Podleśny-Drabiniok, E Marcora, AM Goate - Trends in Neurosciences, 2020 - cell.com
Alzheimer's disease (AD) is a debilitating, chronic neurodegenerative disease. Genetic
studies involving genome-wide association studies (GWAS) and meta-analysis have …

[HTML][HTML] Genetics of Alzheimer's disease: where we are, and where we are going

C Bellenguez, B Grenier-Boley, JC Lambert - Current opinion in …, 2020 - Elsevier
Highlights•More than 40 loci of interest have been associated with the risk of developing
AD.•Recent genetic data clearly implicate microglia as involved in the pathophysiological …

CRISPR-based functional genomics for neurological disease

M Kampmann - Nature Reviews Neurology, 2020 - nature.com
Neurodegenerative, neurodevelopmental and neuropsychiatric disorders are among the
greatest public health challenges, as many lack disease-modifying treatments. A major …

A pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain

HS Dhekne, I Yanatori, RC Gomez, F Tonelli, F Diez… - Elife, 2018 - elifesciences.org
Parkinson's disease-associated LRRK2 kinase phosphorylates multiple Rab GTPases,
including Rab8A and Rab10. We show here that LRRK2 kinase interferes with primary cilia …

Protective genes and pathways in Alzheimer's disease: moving towards precision interventions

M Seto, RL Weiner, L Dumitrescu… - Molecular …, 2021 - Springer
Alzheimer's disease (AD) is a progressive, neurodegenerative disorder that is characterized
by neurodegeneration, cognitive impairment, and an eventual inability to perform daily tasks …

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

MTW Ebbert, TD Jensen, K Jansen-West, JP Sens… - Genome biology, 2019 - Springer
Background The human genome contains “dark” gene regions that cannot be adequately
assembled or aligned using standard short-read sequencing technologies, preventing …

Axonal endoplasmic reticulum dynamics and its roles in neurodegeneration

Z Öztürk, CJ O'Kane, JJ Pérez-Moreno - Frontiers in neuroscience, 2020 - frontiersin.org
The physical continuity of axons over long cellular distances poses challenges for their
maintenance. One organelle that faces this challenge is endoplasmic reticulum (ER); unlike …