Literature DB >> 26209315

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Angelica Bianco1, Iñigo Martínez-Romero2, Luigi Bisceglia3, Leonardo D'Agruma3, Paola Favia1, Eduardo Ruiz-Pesini4, Silvana Guerriero1, Julio Montoya5, Vittoria Petruzzella6.   

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Year:  2015        PMID： 26209315     DOI： 10.1093/brain/awv216

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  14 in total

1.  Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Authors:  Carla Giordano; Valerio Carelli
Journal:  Brain       Date:  2015-07-23       Impact factor: 13.501

2.  Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.

Authors:  Angelica Bianco; Luigi Bisceglia; Paolo Trerotoli; Luciana Russo; Leonardo D'Agruma; Silvana Guerriero; Vittoria Petruzzella
Journal:  Acta Myol       Date:  2017-09-01

3.  Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Authors:  Valerio Carelli; Pio d'Adamo; Maria Lucia Valentino; Chiara La Morgia; Fred N Ross-Cisneros; Leonardo Caporali; Alessandra Maresca; Paola Loguercio Polosa; Piero Barboni; Annamaria De Negri; Federico Sadun; Rustum Karanjia; Solange R Salomao; Adriana Berezovsky; Filipe Chicani; Milton Moraes; Milton Moraes Filho; Rubens Belfort; Alfredo A Sadun
Journal:  Brain       Date:  2015-12-10       Impact factor: 13.501

Review 4.  The potential of mitochondrial genome engineering.

Authors:  Pedro Silva-Pinheiro; Michal Minczuk
Journal:  Nat Rev Genet       Date:  2021-12-02       Impact factor: 53.242

5.  Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome.

Authors:  Giovanna De Michele; Pierpaolo Sorrentino; Claudia Nesti; Anna Rubegni; Lucia Ruggiero; Silvio Peluso; Antonella Antenora; Mario Quarantelli; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Front Neurol       Date:  2018-08-30       Impact factor: 4.003

6.  Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

Authors:  Angelica Bianco; Luigi Bisceglia; Maria Fara De Caro; Valeria Galeandro; Patrizia De Bonis; Apollonia Tullo; Stefano Zoccolella; Silvana Guerriero; Vittoria Petruzzella
Journal:  BMC Med Genet       Date:  2018-07-27       Impact factor: 2.103

7.  Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.

Authors:  Sonia Emperador; Ester López-Gallardo; Carmen Hernández-Ainsa; Mouna Habbane; Julio Montoya; M Pilar Bayona-Bafaluy; Eduardo Ruiz-Pesini
Journal:  Orphanet J Rare Dis       Date:  2019-06-21       Impact factor: 4.123

8.  Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Authors:  Beatrice Berti; Giovanna Longo; Francesco Mari; Stefano Doccini; Ilaria Piccolo; Maria Alice Donati; Francesca Moro; Renzo Guerrini; Filippo M Santorelli; Vittoria Petruzzella
Journal:  BMC Med Genomics       Date:  2021-06-12       Impact factor: 3.063

9.  Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.

Authors:  L Giordano; S Deceglie; P d'Adamo; M L Valentino; C La Morgia; F Fracasso; M Roberti; M Cappellari; G Petrosillo; S Ciaravolo; D Parente; C Giordano; A Maresca; L Iommarini; V Del Dotto; A M Ghelli; S R Salomao; A Berezovsky; R Belfort; A A Sadun; V Carelli; P Loguercio Polosa; P Cantatore
Journal:  Cell Death Dis       Date:  2015-12-17       Impact factor: 8.469

10.  The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.

Authors:  Sonia Emperador; Mariona Vidal; Carmen Hernández-Ainsa; Cristina Ruiz-Ruiz; Daniel Woods; Ana Morales-Becerra; Jorge Arruga; Rafael Artuch; Ester López-Gallardo; M Pilar Bayona-Bafaluy; Julio Montoya; Eduardo Ruiz-Pesini
Journal:  Front Neurosci       Date:  2018-02-09       Impact factor: 4.677
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