Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

J Mitra, EN Guerrero, PM Hegde… - Proceedings of the …, 2019 - National Acad Sciences
Genome damage and their defective repair have been etiologically linked to degenerating
neurons in many subtypes of amyotrophic lateral sclerosis (ALS) patients; however, the …

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

A Konopka, DR Whelan, MS Jamali, E Perri… - Molecular …, 2020 - Springer
Background Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in
motor neurons of almost all amyotrophic lateral sclerosis (ALS) patients, and mutations in …

TDP-43/FUS in motor neuron disease: Complexity and challenges

EN Guerrero, H Wang, J Mitra, PM Hegde… - Progress in …, 2016 - Elsevier
Amyotrophic lateral sclerosis (ALS), a common motor neuron disease affecting two per
100,000 people worldwide, encompasses at least five distinct pathological subtypes …

Rethinking als: The fus about tdp-43

C Lagier-Tourenne, DW Cleveland - Cell, 2009 - cell.com
Mutations in TDP-43, a DNA/RNA-binding protein, cause an inherited form of the
neurodegenerative disease amyotrophic lateral sclerosis (ALS). Two recent studies …

TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage

M Giannini, A Bayona-Feliu, D Sproviero… - PLoS …, 2020 - journals.plos.org
TDP-43 is a DNA and RNA binding protein involved in RNA processing and with structural
resemblance to heterogeneous ribonucleoproteins (hnRNPs), whose depletion sensitizes …

Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage …

EN Guerrero, J Mitra, H Wang… - Human Molecular …, 2019 - academic.oup.com
Dominant mutations in the RNA/DNA-binding protein TDP-43 have been linked to
amyotrophic lateral sclerosis (ALS). Here, we screened genomic DNA extracted from spinal …

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

S Da Cruz, DW Cleveland - Current opinion in neurobiology, 2011 - Elsevier
Dominant mutations in two DNA/RNA binding proteins, TDP-43 and FUS/TLS, are causes of
inherited Amyotrophic Lateral Sclerosis (ALS). TDP-43 and FUS/TLS have striking structural …

DNA damage and repair deficiency in ALS/FTD-associated neurodegeneration: from molecular mechanisms to therapeutic implication

H Wang, M Kodavati, GW Britz… - Frontiers in Molecular …, 2021 - frontiersin.org
Emerging studies reveal that neurodegenerative disorders, including amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD), are commonly linked to DNA damage …

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

C Yang, H Wang, T Qiao, B Yang… - Proceedings of the …, 2014 - National Acad Sciences
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease that causes motor neuron
degeneration, progressive motor dysfunction, paralysis, and death. Although multiple …

[HTML][HTML] Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

LM Igaz, LK Kwong, EB Lee… - The Journal of …, 2011 - Am Soc Clin Investig
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are
characterized by cytoplasmic protein aggregates in the brain and spinal cord that include …