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 …
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 …
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 …
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) …
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
Frontotemporal dementia (FTD) refers to a group of neurodegenerative disorders that are
characterized by pathology predominantly localized to the frontal and temporal lobes …
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 …
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 …
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
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 …
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) …
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 …
selective death of motor neurons leads to muscle weakness and paralysis. Most research …