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knockdown of tsen54 in zebrafish embryos results in loss of structural definition in the brain
TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins.
A novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia (show USP14 Proteins)
TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family.
The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54.
We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 (show TRIP13 Proteins) phenotype.
In two subtypes, PCH2 (show TRIP13 Proteins) and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex.
This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.
tRNA splicing endonuclease 54 homolog (S. cerevisiae)
, tRNA-splicing endonuclease subunit Sen54
, tRNA splicing endonuclease 54 homolog
, tRNA-splicing endonuclease subunit Sen54-like
, likely ortholog of H. sapiens SEN54L
, tRNA-intron endonuclease Sen54
, SEN54 homolog