A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD

KE Irwin, P Jasin, KE Braunstein, IR Sinha, MA Garret… - Nature medicine, 2024 - nature.com
Although loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well
documented in postmortem tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal …

Biomarkers for managing neurodegenerative diseases

L Cheslow, AE Snook, SA Waldman - Biomolecules, 2024 - mdpi.com
Neurological disorders are the leading cause of cognitive and physical disability worldwide,
affecting 15% of the global population. Due to the demographics of aging, the prevalence of …

[HTML][HTML] Understanding age-related pathologic changes in TDP-43 functions and their consequence on RNA splicing and signalling in health and disease

F Cheng, T Chapman, S Zhang, M Morsch… - Ageing Research …, 2024 - Elsevier
Abstract TAR DNA binding protein-43 (TDP-43) is a key component in RNA splicing which
plays a crucial role in the aging process. In neurodegenerative diseases such as …

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease

AR Agra Almeida Quadros, Z Li, X Wang… - Acta …, 2024 - Springer
Nuclear clearance and cytoplasmic accumulations of the RNA-binding protein TDP-43 are
pathological hallmarks in almost all patients with amyotrophic lateral sclerosis (ALS) and up …

TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains

V Estades Ayuso, S Pickles, T Todd, M Yue… - Molecular …, 2023 - Springer
Abstract Background Inclusions of TAR DNA-binding protein 43 kDa (TDP-43) has been
designated limbic-predominant, age-related TDP-43 encephalopathy (LATE), with or without …

SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis

V Baskerville, S Rapuri, E Mehlhop, AN Coyne - Brain, 2024 - academic.oup.com
We have recently identified the aberrant nuclear accumulation of the ESCRT-III protein
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …

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 …

Roadmap for C9ORF72 in frontotemporal dementia and amyotrophic lateral sclerosis: report on the C9ORF72 FTD/ALS summit

R Sattler, BJ Traynor, J Robertson… - Neurology and …, 2023 - Springer
A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic
hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal …

[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 …

HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases

A Calliari, LM Daughrity, EA Albagli… - Molecular …, 2024 - Springer
HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases |
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