Article
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain : a journal of neurology - 22 Jun 2021
Bonora Elena, Chakrabarty Sanjiban, Kellaris Georgios, Tsutsumi Makiko, Bianco Francesca, Bergamini Christian, Ullah Farid, Isidori Federica, Liparulo Irene, Diquigiovanni Chiara, Masin Luca, Rizzardi Nicola, Cratere Mariapia Giuditta, Boschetti Elisa, Papa Valentina, Maresca Alessandra, Cenacchi Giovanna, Casadio Rita, Martelli Pierluigi, Matera Ivana, Ceccherini Isabella, Fato Romana, Raiola Giuseppe, Arrigo Serena, Signa Sara, Sementa Angela Rita, Severino Mariasavina, Striano Pasquale, Fiorillo Chiara, Goto Tsuyoshi, Uchino Shumpei, Oyazato Yoshinobu, Nakamura Hisayoshi, Mishra Sushil K, Yeh Yu-Sheng, Kato Takema, Nozu Kandai, Tanboon Jantima, Morioka Ichiro, Nishino Ichizo, Toda Tatsushi, Goto Yu-Ichi, Ohtake Akira, Kosaki Kenjiro, Yamaguchi Yoshiki, Nonaka Ikuya, Iijima Kazumoto, Mimaki Masakazu, Kurahashi Hiroki, Raams Anja, MacInnes Alyson, Alders Mariel, Engelen Marc, Linthorst Gabor, de Koning Tom, den Dunnen Wilfred, Dijkstra Gerard, van Spaendonck Karin, van Gent Dik C, Aronica Eleonora M, Picco Paolo, Carelli Valerio, Seri Marco, Katsanis Nicholas, Duijkers Floor A M, Taniguchi-Ikeda Mariko, De Giorgio Roberto
Abstract excerpt
Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial...
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