Article
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Human molecular genetics - 15 Apr 2011
Kasher Paul R, Namavar Yasmin, van Tijn Paula, Fluiter Kees, Sizarov Aleksander, Kamermans Maarten, Grierson Andrew J, Zivkovic Danica, Baas Frank
Abstract excerpt
Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. The majority of PCH2 and PCH4 cases are caused by mutations in the TSEN54 gene; one of the four subunits comprising the tRNA-splicing endonuclease...
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