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C12orf65 gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
Inherited optic neuropathies are a clinically heterogeneous group of disorders that can be caused by variants in both the nuclear… Expand
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2017
2017
Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction
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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2015
2015
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome
Background Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial dysfunction… Expand
2015
2015
Response to “Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria”
In a recent paper published by Akabane et al. [1], a homologous mitochondrial translation system was supplemented with ICT1, the… Expand
2015
2015
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
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
Ribosome Rescue and Translation Termination at Non-Standard Stop Codons by ICT1 in Mammalian Mitochondria
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
Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship
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
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
Homozygosity mapping and exome sequencing in two affected siblings of a consanguineous family with mild intellectual disability… Expand
Highly Cited
2012
Highly Cited
2012
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
Background Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative… Expand
Highly Cited
2010
Highly Cited
2010
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in… Expand
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