Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations

By I. Mackenzie, Eileen Bigio, P. Ince, F. Geser, M. Neumann, Nigel J. Cairns, L. Kwong, M. Forman, J. Ravits, H. Stewart and 10 more. Annals of Neurology, 2007

1,008 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/d8c14a3d46d46b647857ff7dc358f2a279684187

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Citations in the corpus

Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia (2011, positive): “Mutations in TDP43, FUS or optineurin occur in a small fraction of familial ALS, but these proteins have been found in the inclusions of a wide spectrum of ALS 6,12,17,18,20 .”
A new subtype of frontotemporal lobar degeneration with FUS pathology. (2009, neutral): “…to be the pathological protein in all cases of FTLD-U and ALS (Arai et al., 2006; Neumann et al., 2006; Davidson et al., 2007), subsequent studies identified some important exceptions (Cairns et al., 2007b; Holm et al., 2007; Mackenzie et al., 2007; Josephs et al., 2008; Pikkarainen et al., 2008).”
Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis (2019, background): “FTLD is a progressive neuronal disease associated with the degeneration of the frontal and temporal lobes with neuronal intranuclear and cytoplasmic inclusions (Mackenzie et al., 2007; Dugger and Dickson, 2017).”
TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS (2020, background): “, 2011), and with mutations in SOD1 (SOD1-ALS), which results in mitochondrial damage without any evidence of TDP-43 pathology (Mackenzie et al., 2007; Tan et al., 2007).”
ALS‐associated fused in sarcoma (FUS) mutations disrupt Transportin‐mediated nuclear import (2010, background): “TDP-43 inclusions are found in most ALS cases, with the exception of fALS caused by mutations in the Cu/Zn superoxide dismutase (SOD1) gene (Mackenzie et al, 2007).”
Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis (2011, positive): “Treatments shown to be effective in SOD1 mouse models, however, have generally not been effective in ALS clinical trials, and the absence of TDP-43 pathology in cases with SOD1 mutations suggests that motor neuron degeneration in these cases may result from a different mechanism (Mackenzie et al., 2”
Pathological roles of MAPK signaling pathways in human diseases. (2010, background): “Recent studies have also implicated the nucleic acid-binding proteins TDP-43 (TAR DNA-binding protein-43) [127] and FUS (fused in”
Stages of pTDP‐43 pathology in amyotrophic lateral sclerosis (2013, result): “In accordance with previous studies, we observed pTDP-43 inclusions in large Betz pyramidal neurons of layer Vb, which in addition to smaller types of pyramidal cells have projections that make up the corticospinal and corticobulbar tracts.(2,27,46) Moreover, we could confirm the results reported by”
Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “In the absence of mutation, TDP-43 pathology can be found in the majority of ALS patients, with the exception of patients with SOD1 mutations (Mackenzie et al., 2007; Tan et al., 2007), and is apparently indistinguishable between patients with or without TDP-43 mutations (Pamphlett et al., 2009).”
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report (2019, background): “Following the detection of TDP-43 proteinopathy in FTLD-TDP and in the large majority of ALS cases (Mackenzie et al., 2007), TDP-43 proteinopathy was also discovered in the brains of subjects over age 80 years without FTLD or ALS, but often with comorbid hippocampal sclerosis and/or ADNC…”