Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.Q285*
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OPA1

NM_130837.3:p.Q285*

Associated Papers

OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory.

Bevan RJ et al.

Brain Communications, 2020

A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function.

Smith TG et al.

Neuroscience, 2016

Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy.

Barnard AR et al.

Experimental Eye Research, 2011

Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.

Heiduschka P et al.

Investigative Ophthalmology & Visual Science, 2010

OPA1-associated disorders: phenotypes and pathophysiology.

Amati-Bonneau P et al.

The International Journal of Biochemistry & Cell Biology, 2009

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.

Davies VJ et al.

Human Molecular Genetics, 2007

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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."