Varaico: Literature-Extracted Genetic Variants

Gene:TACO1
Variant:p.H158insFs
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TACO1

NM_016360.4:p.H158insFs

Associated Papers

More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.

Caron-Godon CA et al.

International Journal of Molecular Sciences, 2024

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease.

Ferreira N et al.

Plos Genetics, 2020

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Oktay Y et al.

Journal of Neuromuscular Diseases, 2020

Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.

Richman TR et al.

Nature Communications, 2016

Cognitive dysfunction in mitochondrial disorders.

Finsterer J

Acta Neurologica Scandinavica, 2012

Clinical and neuropathological findings in patients with TACO1 mutations.

Seeger J et al.

Neuromuscular Disorders : Nmd, 2010

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

Weraarpachai W et al.

Nature Genetics, 2009

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