TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia
JD Marks, VE Ayuso, Y Carlomagno, M Yue… - Science translational …, 2024 - science.org
Genetic variation at the transmembrane protein 106B gene (TMEM106B) has been linked to
risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) through an …
risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) through an …
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration
Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 …
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 …
iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons
Motor neuron degeneration, the defining feature of amyotrophic lateral sclerosis (ALS), is a
primary example of cell-type specificity in neurodegenerative diseases. Using isogenic pairs …
primary example of cell-type specificity in neurodegenerative diseases. Using isogenic pairs …
Efficient generation of lower induced Motor Neurons by coupling Ngn2 expression with developmental cues
F Limone, IG San Juan, JM Mitchell, JLM Smith… - Cell reports, 2023 - cell.com
Human pluripotent stem cells (hPSCs) are a powerful tool for disease modeling of hard-to-
access tissues (such as the brain). Current protocols either direct neuronal differentiation …
access tissues (such as the brain). Current protocols either direct neuronal differentiation …
Non-coding genome contribution to ALS.
The majority of amyotrophic lateral sclerosis (ALS) is caused by a complex gene-
environment interaction. Despite high estimates of heritability, the genetic basis of disease in …
environment interaction. Despite high estimates of heritability, the genetic basis of disease in …
Rsp5/NEDD4 and ESCRT regulate TDP-43 toxicity and turnover via an endolysosomal clearance mechanism
A Byrd, L Marmorale, V Addison, S Marcinowski… - BioRxiv, 2022 - biorxiv.org
A key pathological hallmark in> 97% of all Amyotrophic Lateral Sclerosis (ALS) cases is the
cytoplasmic mislocalization and aggregation of a nuclear RNA binding protein, TDP-43 …
cytoplasmic mislocalization and aggregation of a nuclear RNA binding protein, TDP-43 …
Single-nucleus sequencing reveals enriched expression of genetic risk factors in extratelencephalic neurons sensitive to degeneration in ALS
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a
progressive loss of motor function linked to degenerating extratelencephalic neurons/Betz …
progressive loss of motor function linked to degenerating extratelencephalic neurons/Betz …
The endolysosomal pathway and ALS/FTD
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are considered to be
part of a disease spectrum that is associated with causative mutations and risk variants in a …
part of a disease spectrum that is associated with causative mutations and risk variants in a …
[PDF][PDF] Developing a gene therapy strategy to knock down mutant C9orf72 using viral vectors
K Mayl - 2024 - kclpure.kcl.ac.uk
Background/aims: A hexanucleotide repeat expansion in intron 1 of chromosome 9 open
reading frame 72 (C9orf72) is the most common cause of amyotrophic lateral sclerosis (ALS) …
reading frame 72 (C9orf72) is the most common cause of amyotrophic lateral sclerosis (ALS) …
The role of autophagic kinases in regulation of axonal function
Autophagy is an essential process for maintaining cellular homeostasis. Highlighting the
importance of proper functioning of autophagy in neurons, disruption of autophagy is a …
importance of proper functioning of autophagy in neurons, disruption of autophagy is a …