The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes-Reference-Cited by-同舟云学术

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes

Published:2021-09 Issue: Volume:60 Page:142-149
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Vacchiano Veria,Caporali Leonardo,La Morgia Chiara,Carbonelli Michele^ORCID,Amore Giulia^ORCID,Bartolomei Ilaria,Cascavilla Maria Luisa,Barboni Piero^ORCID,Lamperti Costanza,Catania Alessia^ORCID,Chan Jane W.^ORCID,Karanja Rustum,Sadun Alfredo A.,Liguori Rocco,Bianchi Andrea,Gavazzi Gioele,Mascalchi Mario,Salvi Fabrizio,Carelli Valerio

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference24 articles.

1. Clinical syndromes associated with mtDNA mutations: where we stand after 30 years;Carelli;EssaysBiochem,2018

2. Mitochondrial diseases;Gorman;Nat. Rev. Dis. Primers,2016

3. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders;Carelli;BiochimBiophysActa,2009

4. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1;Moslemi;Neuropediatrics,2008

5. Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions;Caporali;Biochim. Biophys. Acta,2013

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3. Engineering RsDddA as mitochondrial base editor with wide target compatibility and enhanced activity;Molecular Therapy - Nucleic Acids;2023-12

4. Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency;Journal of Human Genetics;2022-12-08

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