Varaico: Literature-Extracted Genetic Variants

Gene:UTRN
Variant:p.E1154K
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UTRN

NM_007124.3:p.E1154K

Associated Papers

Defective post-transcriptional modification of tRNA disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.

Zhang J et al.

The Journal of Biological Chemistry, 2024

Impaired mitochondrial morphological plasticity and failure of mitophagy associated with the G11778A mutation of LHON.

Pasqualotto BA et al.

Biochemical and Biophysical Research Communications, 2024

Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities.

Bahr T et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P et al.

Progress in Retinal and Eye Research, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."