Implementation and validation of single-cell genomics experiments in neuroscience

M Colonna, G Konopka, SA Liddelow… - Nature …, 2024 - nature.com
Single-cell or single-nucleus transcriptomics is a powerful tool for identifying cell types and
cell states. However, hypotheses derived from these assays, including gene expression …

Restoring hippocampal glucose metabolism rescues cognition across Alzheimer's disease pathologies

PS Minhas, JR Jones, A Latif-Hernandez, Y Sugiura… - Science, 2024 - science.org
Impaired cerebral glucose metabolism is a pathologic feature of Alzheimer's disease (AD),
with recent proteomic studies highlighting disrupted glial metabolism in AD. We report that …

Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids

C Bombieri, A Corsi, E Trabetti, A Ruggiero… - International Journal of …, 2024 - mdpi.com
Organoids are self-organized, three-dimensional structures derived from stem cells that can
mimic the structure and physiology of human organs. Patient-specific induced pluripotent …

CRISPRi-based screens in iAssembloids to elucidate neuron-glia interactions

E Li, C Benitez, SC Boggess, M Koontz, IVL Rose… - Neuron, 2023 - cell.com
The complexity of the human brain makes it challenging to understand the molecular
mechanisms underlying brain function. Genome-wide association studies have uncovered …

Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease

YS Yang, E Bagyinszky, SSA An - International Journal of Molecular …, 2023 - mdpi.com
In this manuscript, we introduced a French EOAD patient in Korea who carried the presenilin-
1 (PSEN1) Glu318Gly mutations with four possible risk variants, including sortilin-related …

[HTML][HTML] Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons

S Lépine, A Nauleau-Javaudin, E Deneault, CXQ Chen… - Iscience, 2024 - cell.com
Cytoplasmic mislocalization and aggregation of the RNA-binding protein TDP-43 is a
pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS) …

Targeting Progranulin as an Immuno-Neurology Therapeutic Approach

MA Boylan, A Pincetic, G Romano, N Tatton… - International Journal of …, 2023 - mdpi.com
Immuno-neurology is an emerging therapeutic strategy for dementia and neurodegeneration
designed to address immune surveillance failure in the brain. Microglia, as central nervous …

Advances in human cellular mechanistic understanding and drug discovery of brain organoids for neurodegenerative diseases

T Lei, X Zhang, G Fu, S Luo, Z Zhao, S Deng… - Ageing Research …, 2024 - Elsevier
The prevalence of neurodegenerative diseases (NDs) is increasing rapidly as the aging
population accelerates, and there are still no treatments to halt or reverse the progression of …

Towards an integrated approach for understanding glia in Amyotrophic Lateral Sclerosis

S Majewski, P Klein, S Boillée, BE Clarke, R Patani - Glia, 2024 - Wiley Online Library
Substantial advances in technology are permitting a high resolution understanding of the
salience of glia, and have helped us to transcend decades of predominantly neuron‐centric …

Unleashing the potential of mRNA therapeutics for inherited neurological diseases

E Monfrini, G Baso, D Ronchi, M Meneri, D Gagliardi… - Brain, 2024 - academic.oup.com
Neurological monogenic loss-of-function diseases are hereditary disorders resulting from
gene mutations that decrease or abolish the normal function of the encoded protein. These …