Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

PT Nelson, DW Dickson, JQ Trojanowski, CR Jack… - Brain, 2019 - academic.oup.com
We describe a recently recognized disease entity, limbic-predominant age-related TDP-43
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD

S Seddighi, YA Qi, AL Brown, OG Wilkins… - Science translational …, 2024 - science.org
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …

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 …

The era of cryptic exons: implications for ALS-FTD

PR Mehta, AL Brown, ME Ward, P Fratta - Molecular Neurodegeneration, 2023 - Springer
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …

Frontotemporal dementia

NT Olney, S Spina, BL Miller - Neurologic clinics, 2017 - pmc.ncbi.nlm.nih.gov
Frontotemporal Dementia (FTD) is a heterogeneous disorder with distinct clinical
phenotypes associated with multiple neuropathologic entities. Presently, the term FTD …

TDP-43 pathology in Alzheimer's disease

A Meneses, S Koga, J O'Leary, DW Dickson… - Molecular …, 2021 - Springer
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …

C9ORF72-ALS/FTD-associated poly (GR) binds Atp5a1 and compromises mitochondrial function in vivo

SY Choi, R Lopez-Gonzalez, G Krishnan… - Nature …, 2019 - nature.com
The GGGGCC repeat expansion in C9ORF72 is the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, it is not …

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

AN Coyne, V Baskerville, BL Zaepfel… - Science translational …, 2021 - science.org
Alterations in the components [nucleoporins (Nups)] and function of the nuclear pore
complex (NPC) have been implicated as contributors to the pathogenesis of genetic forms of …

The role of dipeptide repeats in C9ORF72-related ALS-FTD

BD Freibaum, JP Taylor - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Expansion of a hexanucleotide (GGGGCC) repeat in the gene chromosome 9 open reading
frame 72 (C9ORF72) is the most common cause of amyotrophic lateral sclerosis and …