KEGG   VARIANT: 3980v1
Entry
3980v1                      Variant                                
Name
LIG3 mutation
Type
Loss of function
Gene
LIG3  DNA ligase 3 [KO:K10776]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600940
Network
nt06504  Base excision repair
Disease
H01390  Mitochondrial neurogastrointestinal encephalomyopathy
Reference
  Authors
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
  Title
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
  Journal
Brain 144:1451-1466 (2021)
DOI:10.1093/brain/awab056
Reference
  Authors
Gao Y, Katyal S, Lee Y, Zhao J, Rehg JE, Russell HR, McKinnon PJ
  Title
DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair.
  Journal
Nature 471:240-4 (2011)
DOI:10.1038/nature09773
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