Article
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
American journal of human genetics - 7 Jul 2016
Breuss Martin W, Sultan Tipu, James Kiely N, Rosti Rasim O, Scott Eric, Musaev Damir, Furia Bansri, Reis André, Sticht Heinrich, Al-Owain Mohammed, Alkuraya Fowzan S, Reuter Miriam S, Abou Jamra Rami, Trotta Christopher R, Gleeson Joseph G
Abstract excerpt
The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved in the cleavage of intron-containing tRNAs. In human it consists of the catalytic subunits TSEN2 and TSEN34, as well as the non-catalytic TSEN54 and TSEN15. Recessive mutations in the corresponding genes of the first three are known to cause pontocerebellar hypoplasia (PCH) types 2A-C, 4, and 5. Here, we report three...
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