Homozygous p.V116* mutation inC12orf65results in Leigh syndrome

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

(2014) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation

(2013) Rebecca Buchert et al.   European Journal of Medical Genetics

Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene

(2013) Gena Heidary et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

(2013) A. Tucci et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Architecture of the large subunit of the mammalian mitochondrial ribosome

(2013) Basil J. Greber et al.   NATURE

Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65

(2013) Hiroyuki Kogure et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Structure based hypothesis of a mitochondrial ribosome rescue mechanism

(2012) Martijn A Huynen et al.   Biology Direct

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

Mechanism of protein biosynthesis in mammalian mitochondria

(2011) Brooke E. Christian et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Terminating human mitochondrial protein synthesis: A shift in our thinking

(2010) Robert N. Lightowlers et al.   RNA Biology