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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

TRNA splicing endonuclease 54 homolog

Sen54, Sen54p, HsSen54, PCH4
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.[provided by RefSeq, Oct 2009] (from NCBI)
Papers on Sen54
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
GeneRIF
Santorelli et al., In Acta Neuropathol, 2011
TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family.
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
GeneRIF
Zoghbi et al., Cleveland, United States. In J Child Neurol, 2011
The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54.
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
GeneRIF
Bertini et al., Genova, Italy. In Neurology, 2010
We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Impact
GeneRIF
Baas et al., Köln, Germany. In Nat Genet, 2008
In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex.
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