[HTML][HTML] Stress-induced TDP-43 nuclear condensation causes splicing loss of function and STMN2 depletion
WP Huang, BCS Ellis, RE Hodgson, AS Avila, V Kumar… - Cell Reports, 2024 - cell.com
TDP-43 protein is dysregulated in several neurodegenerative diseases, which often have a
multifactorial nature and may have extrinsic stressors as a" second hit." TDP-43 undergoes …
multifactorial nature and may have extrinsic stressors as a" second hit." TDP-43 undergoes …
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
P Ervilha Pereira, N Schuermans, A Meylemans… - Acta …, 2023 - Springer
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic …
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic …
CircTmeff1 Promotes Muscle Atrophy by Interacting with TDP‐43 and Encoding A Novel TMEFF1‐339aa Protein
R Chen, T Yang, B Jin, W Xu, Y Yan, N Wood… - Advanced …, 2023 - Wiley Online Library
Skeletal muscle atrophy is a common clinical feature of many acute and chronic conditions.
Circular RNAs (circRNAs) are covalently closed RNA transcripts that are involved in various …
Circular RNAs (circRNAs) are covalently closed RNA transcripts that are involved in various …
[HTML][HTML] N-Terminal Fragments of TDP-43—In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar …
AA Chami, L Bedja-Iacona, E Richard, D Lanznaster… - Genes, 2024 - mdpi.com
Abnormal cytoplasmic aggregates containing the TDP-43 protein and its fragments are
present in the central nervous system of the majority of patients with amyotrophic lateral …
present in the central nervous system of the majority of patients with amyotrophic lateral …
A patient carrying a heterozygous p. Asn267Ser TARDBP missense mutation diagnosed as ALS and only involving lower motor neurons
S Jin, Z Sun, X Fang, H Chen, W Yang - Neurological Sciences, 2023 - Springer
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease involving upper
motor neurons (UMN) and lower motor neurons (LMN), which can be caused by mutations of …
motor neurons (UMN) and lower motor neurons (LMN), which can be caused by mutations of …
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations
SP Allen, A Al Sultan, E Kabucho Kibirige… - Frontiers in Aging …, 2023 - frontiersin.org
A p. Y374X truncation in TARDBP was recently shown to reduce expression of TDP43 in
fibroblasts isolated from ALS cases. In this follow up study focused on assessing the …
fibroblasts isolated from ALS cases. In this follow up study focused on assessing the …
[HTML][HTML] TARDBP-related amyotrophic lateral sclerosis-frontotemporal dementia
V Manohar, L Crowley, J Sreedharan - 2015 - europepmc.org
In this GeneReview, TARDBP amyotrophic lateral sclerosis-frontotemporal dementia
(TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in …
(TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in …
[HTML][HTML] TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia Synonyms: TARDBP-ALS-FTD, TDP-43 Proteinopathy, TDP-43-Linked ALS-FTD
V Manohar, J Sreedharan - europepmc.org
In this GeneReview, TARDBP amyotrophic lateral sclerosis-frontotemporal dementia
(TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in …
(TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in …