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Pontocerebellar Hypoplasia Type 6

Known as: ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS, PCH6, PONTOCEREBELLAR HYPOPLASIA, TYPE 6 
National Institutes of Health

Papers overview

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2018
2018
Human mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are key enzymes in the mitochondrial protein translation system and… 
2015
2015
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset… 
2013
2013
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… 
2011
2011
Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar… 
2008
2008
The unfolded protein response (UPR) is an interorganellar signal transduction pathway that monitors endoplasmic reticulum (ER… 
2000
2000
  • W. LiY. Z. Zhang
  • 2000
  • Corpus ID: 3034626
Promoter-probe vector pSUPV8 was used to clone promoters from Phanerochaete chrysosporium directly in Escherichia coli. Six…