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 …

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 …

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 …

[PDF][PDF] 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) …

[HTML][HTML] hiPSC-derived GRN-deficient astrocytes delay spiking activity of developing neurons

C Lee, J Frew, NL Weilinger, S Wendt, W Cai… - Neurobiology of …, 2023 - Elsevier
Frontotemporal dementia (FTD) refers to a group of neurodegenerative disorders that are
characterized by pathology predominantly localized to the frontal and temporal lobes …

Induced Pluripotent Stem Cells and Organoids in Advancing Neuropathology Research and Therapies

DB Pazzin, TTR Previato, JI Budelon Gonçalves… - Cells, 2024 - mdpi.com
This review delves into the groundbreaking impact of induced pluripotent stem cells (iPSCs)
and three-dimensional organoid models in propelling forward neuropathology research …

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 …

[HTML][HTML] CRISPRi-based screens in iAssembloids to elucidate neuron-glia interactions

E Li, C Benitez, SC Boggess, M Koontz, IVL Rose… - bioRxiv, 2023 - ncbi.nlm.nih.gov
The sheer complexity of the brain has complicated our ability to understand its cellular
mechanisms in health and disease. Genome-wide association studies have uncovered …

[PDF][PDF] Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to progressive synaptic dysfunction in human iPSC-derived motor neurons

S Lépine, A Nauleau-Javaudin, E Deneault, CXQ Chen… - bioRxiv, 2023 - researchgate.net
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) …

New developments in pre-clinical models of ALS to guide translation.

L De Cock, V Bercier… - International Review of …, 2024 - europepmc.org
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder in which
selective death of motor neurons leads to muscle weakness and paralysis. Most research …