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C12orf65 gene

Known as: C12ORF65, CHROMOSOME 12 OPEN READING FRAME 65, FLJ38663 
 

Topic mentions per year

Topic mentions per year

2010-2016
01220102016

Papers overview

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2016
2016
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… (More)
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Review
2014
Review
2014
[Clinical aspects of hereditary spastic paraplegias].
Hereditary spastic paraplegias (HSPs) were characterized by progressive leg spasticity with various additional symptoms as… (More)
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2012
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… (More)
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2012
2012
Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65.
Loss of function of the c12orf65 gene causes a mitochondrial translation defect, leading to encephalomyopathy. The C12orf65… (More)
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2010
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… (More)
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