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C12orf65 gene

Known as: C12ORF65, CHROMOSOME 12 OPEN READING FRAME 65, FLJ38663 
National Institutes of Health

Papers overview

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2017
2017
Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65… 
2015
2015
Background Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial dysfunction… 
2015
2015
In a recent paper published by Akabane et al. [1], a homologous mitochondrial translation system was supplemented with ICT1, the… 
2015
2015
Background: Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It… 
Highly Cited
2014
Highly Cited
2014
Release factors (RFs) govern the termination phase of protein synthesis. Human mitochondria harbor four different members of the… 
2014
2014
C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of… 
Highly Cited
2012
Highly Cited
2012
Background Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative… 
Highly Cited
2010