KEGG   NETWORK: N01155
Entry
N01155                      Network                                
Name
Mutation-caused aberrant TDP43 to TDP-43-regulated splicing
Definition
mRNA(pre) // TARDBP* // mRNA
  Expanded
C00046 // 23435v1 // C00046
Class
nt06424 RNA processing
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
23435  TARDBP; TAR DNA binding protein
Variant
23435v1 (TARDBP*)  TARDBP mutation
Metabolite
C00046  RNA
C00046  RNA
Reference
  Authors
Shiga A, Ishihara T, Miyashita A, Kuwabara M, Kato T, Watanabe N, Yamahira A, Kondo C, Yokoseki A, Takahashi M, Kuwano R, Kakita A, Nishizawa M, Takahashi H, Onodera O
  Title
Alteration of POLDIP3 splicing associated with loss of function of TDP-43 in tissues affected with ALS.
  Journal
PLoS One 7:e43120 (2012)
DOI:10.1371/journal.pone.0043120
Reference
  Authors
Ling JP, Pletnikova O, Troncoso JC, Wong PC
  Title
TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD.
  Journal
Science 349:650-5 (2015)
DOI:10.1126/science.aab0983
Reference
  Authors
Budini M, Buratti E, Morselli E, Criollo A
  Title
Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72.
  Journal
Front Mol Neurosci 10:170 (2017)
DOI:10.3389/fnmol.2017.00170
Reference
  Authors
Liu EY, Cali CP, Lee EB
  Title
RNA metabolism in neurodegenerative disease.
  Journal
Dis Model Mech 10:509-518 (2017)
DOI:10.1242/dmm.028613
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