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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… Expand
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2016
2016
BACKGROUND Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial dysfunction… Expand
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2015
2015
In a recent paper published by Akabane et al. [1], a homologous mitochondrial translation system was supplemented with ICT1, the… Expand
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2015
2015
Background: Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It… Expand
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2014
2014
Release factors (RFs) govern the termination phase of protein synthesis. Human mitochondria harbor four different members of the… Expand
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2014
2014
C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of… Expand
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2013
2013
Homozygosity mapping and exome sequencing in two affected siblings of a consanguineous family with mild intellectual disability… Expand
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2012
2012
BACKGROUND Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative… Expand
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2012
2012
Loss of function of the c12orf65 gene causes a mitochondrial translation defect, leading to encephalomyopathy. The C12orf65… Expand
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Highly Cited
2010
Highly Cited
2010
We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in… Expand
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