Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

2016/04/10 by Sevim Şahin, Ali Cansu, Ersan Kalay +6 · 10 citations
Biochemistry, Genetics and Molecular Biology · #RNA regulation and disease #Mitochondrial Function and Pathology #Genetics and Neurodevelopmental Disorders

paper · doi:10.1016/j.jns.2016.04.008

Citations

• DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

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• Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. [europepmc]
• Mitochondrial dysfunction and its role in tissue-specific cellular stress. [europepmc]
• Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement". [europepmc]
• Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging. [europepmc]
• Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. [europepmc]
• EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer. [europepmc]