Biomarkers in amyotrophic lateral sclerosis: current status and future prospects
Disease heterogeneity in amyotrophic lateral sclerosis poses a substantial challenge in drug
development. Categorization based on clinical features alone can help us predict the …
development. Categorization based on clinical features alone can help us predict the …
Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum
LM Gittings, EB Alsop, J Antone, M Singer… - Acta …, 2023 - Springer
The C9ORF72-linked diseases amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) are characterized by the nuclear depletion and cytoplasmic accumulation of …
dementia (FTD) are characterized by the nuclear depletion and cytoplasmic accumulation of …
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS
TDP-43 is an aggregation-prone protein which accumulates in the hallmark pathological
inclusions of amyotrophic lateral sclerosis (ALS). However, the analysis of deeply …
inclusions of amyotrophic lateral sclerosis (ALS). However, the analysis of deeply …
Granulin loss of function in human mature brain organoids implicates astrocytes in TDP-43 pathology
Loss of function (LoF) of TAR-DNA binding protein 43 (TDP-43) and mis-localization,
together with TDP-43-positive and hyperphosphorylated inclusions, are found in post …
together with TDP-43-positive and hyperphosphorylated inclusions, are found in post …
[HTML][HTML] Biomarkers in frontotemporal dementia: Current landscape and future directions
A Gifford, N Praschan, A Newhouse… - Biomarkers in …, 2023 - Elsevier
Frontotemporal dementia (FTD) is one of the most common neurodegenerative diseases,
encompassing a myriad of different, clinically distinct subtypes which all target the …
encompassing a myriad of different, clinically distinct subtypes which all target the …
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis
J Zibold, LER Lessard, F Picard, LG da Silva… - Brain, 2024 - academic.oup.com
TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark
of several neurodegenerative diseases including familial amyotrophic lateral sclerosis …
of several neurodegenerative diseases including familial amyotrophic lateral sclerosis …
[HTML][HTML] TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes
In frontotemporal dementia and amyotrophic lateral sclerosis, the RNA-binding protein TDP-
43 is depleted from the nucleus. TDP-43 loss leads to cryptic exon inclusion but a role in …
43 is depleted from the nucleus. TDP-43 loss leads to cryptic exon inclusion but a role in …
Six genetically linked mutations in the CD36 gene significantly delay the onset of Alzheimer's disease
O Šerý, T Zeman, K Sheardová, M Vyhnálek… - Scientific Reports, 2022 - nature.com
The risk of Alzheimer's disease (AD) has a strong genetic component, also in the case of late-
onset AD (LOAD). Attempts to sequence whole genome in large populations of subjects …
onset AD (LOAD). Attempts to sequence whole genome in large populations of subjects …
[HTML][HTML] Molecular mechanisms linking loss of TDP-43 function to amyotrophic lateral sclerosis/frontotemporal dementia-related genes
Y Koike - Neuroscience Research, 2024 - Elsevier
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by
nuclear depletion and cytoplasmic aggregation of TAR DNA-binding protein-43 (TDP-43) …
nuclear depletion and cytoplasmic aggregation of TAR DNA-binding protein-43 (TDP-43) …
Two-sample Mendelian randomization analysis of 91 circulating inflammatory protein levels and amyotrophic lateral sclerosis
C Xiao, X Gu, Y Feng, J Shen - Frontiers in Aging Neuroscience, 2024 - frontiersin.org
Introduction Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with poorly
understood pathophysiology. Recent studies have highlighted systemic inflammation …
understood pathophysiology. Recent studies have highlighted systemic inflammation …