TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

By E. Kabashi, P. Valdmanis, P. Dion, D. Spiegelman, Brendan J. McConkey, C. Velde, J. Bouchard, L. Lacomblez, K. Pochigaeva, F. Salachas and 5 more. Nature Genetics, 2008

1,587 citations recorded by the source corpus.

Subfields: Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/96fe3bf8d7ef665f64ffa6a449711f7cc65d02a4

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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 superoxide dismutase 1 (SOD1) 1,2 , TAR DNA-binding protein (TARDBP, also known as TDP43) 3,4 and fused in sarcoma (FUS, also known as translocated in liposarcoma (TLS)) 5,6 account for approximately 30% of classic familial ALS.”
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012, neutral): “The genotype of sample III:2 in family 2 (1) was inferred from the genotypes of spouse and progeny (not shown).”
Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “This finding was followed by the discovery of mutations in the gene encoding the RNA-binding protein TDP-43 in 5% of familial ALS cases (Kabashi et al., 2008; Sreedharan et al., 2008; Van Deerlin et al., 2008) and rare patients with FTD (Borroni et al., 2009; Kovacs et al., 2009).”
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity (2009, methodology): “In lymphoblastoid cell lines derived from patients carrying TARDBP mutations, the accumulation of detergent-insoluble TDP-43 cleavage products of 25 and 35-kDa is observed (10, 11), providing additional indication for a pathological role of TDP-43 fragments in disease.”
Rethinking ALS: the FUS about TDP-43. (2009, background): “Starting in early 2008, dominant mutations in the TARDBP gene were reported by several groups as a primary cause of ALS (e.g., Corrado et al., 2009; Daoud et al., 2009; Gitcho et al., 2008; Kabashi et al., 2008; Sreedharan et al., 2008; Van Deerlin et al., 2008; for review see Banks et al., 2008).”
TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS (2020, background): “, A315T, Q331K, or M337V) have been found to cause ALS (Kabashi et al., 2008; Sreedharan et al., 2008).”
TDP‐43 regulates its mRNA levels through a negative feedback loop (2011, background): “In a wider perspective, however, of all the mutations that have been described in a fraction of patients affected by familial forms of ALS (recently reviewed by Pesiridis et al, 2009), only the D169G mutation may have potentially interfered with its autoregulatory process (Kabashi et al, 2008).”
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. (2010, background): “Accumulation of another fragment with apparent molecular weight of 35 kDa was also found in lymphoblastoid cell lines derived from patients with TDP-43 mutations (15,19), but in CNS tissues of patients, this 35 kDa fragment is either low or undetectable (6,54,55), suggesting that this fragment is no”
Exome sequencing reveals VCP mutations as a cause of familial ALS (2010, positive): “…in familial ALS will have to be confirmed in independent cohorts, this mutational frequency is comparable to that reported for TDP-43 and FUS mutations (Kabashi et al., 2008; Chiò et al., 2009; Mackenzie et al., 2010), highlighting the relative significance of this gene as a cause of familial ALS.”
ALS‐associated fused in sarcoma (FUS) mutations disrupt Transportin‐mediated nuclear import (2010, background): “Of these, about 5–10% are caused by mutations in the TAR DNA-binding protein 43 (TDP-43) gene on chromosome 1 (Gitcho et al, 2008; Kabashi et al, 2008; Mackenzie and Rademakers, 2008; Sreedharan et al, 2008) or the FUS gene on chromosome 16 (Kwiatkowski et al, 2009; Vance et al, 2009).”