ERAL1

Publications

Chatzispyrou IA et al. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. Hum Mol Genet. 2017;26(13):2541-2550.  PMID: 28449065.

Dennerlein S et al. Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit. Biochem J. 2010;430(3):551-8.  PMID: 20604745.

Newman WG et al. Perrault Syndrome. In: Adam MP et al. GeneReviews. 2018.  PMID: 25254289.