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

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1832, Issue 3, 2013, Pages 445-452

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

^a IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c Studio Oculistico d'Azeglio   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e SCIENTIFIC INSTITUTE   (Italy)

^f UNIVERSITY OF PERUGIA   (Italy)

^g UNIVERSITY OF PAVIA   (Italy)

Author keywords

Complex I; Mitochondrial disorder; MT ND1; Vision loss

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; BRAIN STEM; CASE REPORT; CENTRAL NERVOUS SYSTEM; CORPUS STRIATUM; CYBRID; GENE MUTATION; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MALE; OPTIC NERVE ATROPHY; PATHOGENICITY; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; BRAIN STEM; CELL LINE, TUMOR; DNA, MITOCHONDRIAL; FEMALE; HUMANS; HYBRID CELLS; LACTATES; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION, MISSENSE; NADH DEHYDROGENASE; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84872376520     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.12.002     Document Type: Article

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