Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

Author:

Caporali Leonardo,Ghelli Anna Maria,Iommarini Luisa,Maresca Alessandra,Valentino Maria Lucia,La Morgia Chiara,Liguori Rocco,Zanna Claudia,Barboni Piero,De Nardo Vera,Martinuzzi Andrea,Rizzo Giovanni,Tonon Caterina,Lodi Raffaele,Calvaruso Maria Antonietta,Cappelletti Martina,Porcelli Anna Maria,Achilli Alessandro,Pala Maria,Torroni Antonio,Carelli Valerio

Funder

Telethon-Italy

ERARE European consortium

Fondazione Alma Mater Ticinensis

Italian Ministry of the University: Progetti Ricerca Interesse Nazionale 2009

FIRB-Futuro in Ricerca 2008

Italian Ministry of the University project FIRB “Futuro in Ricerca”

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference39 articles.

1. Respiratory complex I: ‘steam engine’ of the cell?;Efremov;Curr. Opin. Struct. Biol.,2011

2. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease;Distelmaier;Brain,2009

3. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy;Wallace;Science,1988

4. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees;Howell;Am. J. Hum. Genet.,1991

5. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy;Johns;Biochem. Biophys. Res. Commun.,1992

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