Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea. Orphanet J Rare Dis 2012
Times Cited: 139
Times Cited: 139
Times Cited
Times Co-cited
Similarity
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
C Delettre, G Lenaers, J M Griffoin, N Gigarel, C Lorenzo, P Belenguer, L Pelloquin, J Grosgeorge, C Turc-Carel, E Perret,[...]. Nat Genet 2000
C Delettre, G Lenaers, J M Griffoin, N Gigarel, C Lorenzo, P Belenguer, L Pelloquin, J Grosgeorge, C Turc-Carel, E Perret,[...]. Nat Genet 2000
35
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
C Alexander, M Votruba, U E Pesch, D L Thiselton, S Mayer, A Moore, M Rodriguez, U Kellner, B Leo-Kottler, G Auburger,[...]. Nat Genet 2000
C Alexander, M Votruba, U E Pesch, D L Thiselton, S Mayer, A Moore, M Rodriguez, U Kellner, B Leo-Kottler, G Auburger,[...]. Nat Genet 2000
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Multi-system neurological disease is common in patients with OPA1 mutations.
P Yu-Wai-Man, P G Griffiths, G S Gorman, C M Lourenco, A F Wright, M Auer-Grumbach, A Toscano, O Musumeci, M L Valentino, L Caporali,[...]. Brain 2010
P Yu-Wai-Man, P G Griffiths, G S Gorman, C M Lourenco, A F Wright, M Auer-Grumbach, A Toscano, O Musumeci, M L Valentino, L Caporali,[...]. Brain 2010
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Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
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The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Patrick Yu-Wai-Man, Philip G Griffiths, Ailbhe Burke, Peter W Sellar, Michael P Clarke, Lawrence Gnanaraj, Desiree Ah-Kine, Gavin Hudson, Birgit Czermin, Robert W Taylor,[...]. Ophthalmology 2010
Patrick Yu-Wai-Man, Philip G Griffiths, Ailbhe Burke, Peter W Sellar, Michael P Clarke, Lawrence Gnanaraj, Desiree Ah-Kine, Gavin Hudson, Birgit Czermin, Robert W Taylor,[...]. Ophthalmology 2010
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Patrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, Maria Esther Gallardo, Belén Bornstein, Anne Boissière, Yolanda Campos, Henry Rivera, Jesús González de la Aleja, Rosanna Carroccia,[...]. Brain 2008
Patrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, Maria Esther Gallardo, Belén Bornstein, Anne Boissière, Yolanda Campos, Henry Rivera, Jesús González de la Aleja, Rosanna Carroccia,[...]. Brain 2008
20
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
Claudia Zanna, Anna Ghelli, Anna Maria Porcelli, Mariusz Karbowski, Richard J Youle, Simone Schimpf, Bernd Wissinger, Marcello Pinti, Andrea Cossarizza, Sara Vidoni,[...]. Brain 2008
Claudia Zanna, Anna Ghelli, Anna Maria Porcelli, Mariusz Karbowski, Richard J Youle, Simone Schimpf, Bernd Wissinger, Marcello Pinti, Andrea Cossarizza, Sara Vidoni,[...]. Brain 2008
18
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Marc Ferré, Dominique Bonneau, Dan Milea, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi,[...]. Hum Mutat 2009
Marc Ferré, Dominique Bonneau, Dan Milea, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi,[...]. Hum Mutat 2009
17
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Marc Ferré, Angélique Caignard, Dan Milea, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati-Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio,[...]. Hum Mutat 2015
Marc Ferré, Angélique Caignard, Dan Milea, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati-Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio,[...]. Hum Mutat 2015
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Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
Amy C Cohn, Carmel Toomes, Catherine Potter, Katherine V Towns, Alex W Hewitt, Chris F Inglehearn, Jamie E Craig, David A Mackey. Am J Ophthalmol 2007
Amy C Cohn, Carmel Toomes, Catherine Potter, Katherine V Towns, Alex W Hewitt, Chris F Inglehearn, Jamie E Craig, David A Mackey. Am J Ophthalmol 2007
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A neurodegenerative perspective on mitochondrial optic neuropathies.
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli. Acta Neuropathol 2016
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli. Acta Neuropathol 2016
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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Lucas Fares-Taie, Naig Gueguen, François Halloy, David Moore, Patrizia Amati-Bonneau,[...]. Am J Hum Genet 2015
Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Lucas Fares-Taie, Naig Gueguen, François Halloy, David Moore, Patrizia Amati-Bonneau,[...]. Am J Hum Genet 2015
41
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chretien, Xavier Gérard, Patrizia Amati-Bonneau, Marie-Christine Giacomotto, Nathalie Boddaert, Anna Kaminska,[...]. J Med Genet 2014
Metodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chretien, Xavier Gérard, Patrizia Amati-Bonneau, Marie-Christine Giacomotto, Nathalie Boddaert, Anna Kaminska,[...]. J Med Genet 2014
24
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre,[...]. Brain 2017
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre,[...]. Brain 2017
22
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
C Toomes, N J Marchbank, D A Mackey, J E Craig, R A Newbury-Ecob, C P Bennett, C J Vize, S P Desai, G C Black, N Patel,[...]. Hum Mol Genet 2001
C Toomes, N J Marchbank, D A Mackey, J E Craig, R A Newbury-Ecob, C P Bennett, C J Vize, S P Desai, G C Black, N Patel,[...]. Hum Mol Genet 2001
14
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier,[...]. J Med Genet 2004
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier,[...]. J Med Genet 2004
14
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.
Patrick Yu-Wai-Man, Patrick F Chinnery. Ophthalmology 2013
Patrick Yu-Wai-Man, Patrick F Chinnery. Ophthalmology 2013
35
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Gavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, Joanna D Stewart, Langping He, Andrew M Schaefer, Philip G Griffiths, Kati Ahlqvist, Anu Suomalainen, Pascal Reynier,[...]. Brain 2008
Gavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, Joanna D Stewart, Langping He, Andrew M Schaefer, Philip G Griffiths, Kati Ahlqvist, Anu Suomalainen, Pascal Reynier,[...]. Brain 2008
13
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.
Aurélien Olichon, Laurent Baricault, Nicole Gas, Emmanuelle Guillou, Annie Valette, Pascale Belenguer, Guy Lenaers. J Biol Chem 2003
Aurélien Olichon, Laurent Baricault, Nicole Gas, Emmanuelle Guillou, Annie Valette, Pascale Belenguer, Guy Lenaers. J Biol Chem 2003
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Mutation spectrum and splicing variants in the OPA1 gene.
C Delettre, J M Griffoin, J Kaplan, H Dollfus, B Lorenz, L Faivre, G Lenaers, P Belenguer, C P Hamel. Hum Genet 2001
C Delettre, J M Griffoin, J Kaplan, H Dollfus, B Lorenz, L Faivre, G Lenaers, P Belenguer, C P Hamel. Hum Genet 2001
13
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
Valerio Carelli, Olimpia Musumeci, Leonardo Caporali, Claudia Zanna, Chiara La Morgia, Valentina Del Dotto, Anna Maria Porcelli, Michela Rugolo, Maria Lucia Valentino, Luisa Iommarini,[...]. Ann Neurol 2015
Valerio Carelli, Olimpia Musumeci, Leonardo Caporali, Claudia Zanna, Chiara La Morgia, Valentina Del Dotto, Anna Maria Porcelli, Michela Rugolo, Maria Lucia Valentino, Luisa Iommarini,[...]. Ann Neurol 2015
12
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Ghizlane Elachouri, Sara Vidoni, Claudia Zanna, Alexandre Pattyn, Hassan Boukhaddaoui, Karen Gaget, Patrick Yu-Wai-Man, Giuseppe Gasparre, Emmanuelle Sarzi, Cécile Delettre,[...]. Genome Res 2011
Ghizlane Elachouri, Sara Vidoni, Claudia Zanna, Alexandre Pattyn, Hassan Boukhaddaoui, Karen Gaget, Patrick Yu-Wai-Man, Giuseppe Gasparre, Emmanuelle Sarzi, Cécile Delettre,[...]. Genome Res 2011
12
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Vanessa J Davies, Andrew J Hollins, Malgorzata J Piechota, Wanfen Yip, Jennifer R Davies, Kathryn E White, Phillip P Nicols, Michael E Boulton, Marcela Votruba. Hum Mol Genet 2007
Vanessa J Davies, Andrew J Hollins, Malgorzata J Piechota, Wanfen Yip, Jennifer R Davies, Kathryn E White, Phillip P Nicols, Michael E Boulton, Marcela Votruba. Hum Mol Genet 2007
12
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
12
OPA1-associated disorders: phenotypes and pathophysiology.
Patrizia Amati-Bonneau, Dan Milea, Dominique Bonneau, Arnaud Chevrollier, Marc Ferré, Virginie Guillet, Naïg Gueguen, Dominique Loiseau, Marie-Anne Pou de Crescenzo, Christophe Verny,[...]. Int J Biochem Cell Biol 2009
Patrizia Amati-Bonneau, Dan Milea, Dominique Bonneau, Arnaud Chevrollier, Marc Ferré, Virginie Guillet, Naïg Gueguen, Dominique Loiseau, Marie-Anne Pou de Crescenzo, Christophe Verny,[...]. Int J Biochem Cell Biol 2009
12
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
U E Pesch, B Leo-Kottler, S Mayer, B Jurklies, U Kellner, E Apfelstedt-Sylla, E Zrenner, C Alexander, B Wissinger. Hum Mol Genet 2001
U E Pesch, B Leo-Kottler, S Mayer, B Jurklies, U Kellner, E Apfelstedt-Sylla, E Zrenner, C Alexander, B Wissinger. Hum Mol Genet 2001
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Mitochondrial dysfunction as a cause of optic neuropathies.
Valerio Carelli, Fred N Ross-Cisneros, Alfredo A Sadun. Prog Retin Eye Res 2004
Valerio Carelli, Fred N Ross-Cisneros, Alfredo A Sadun. Prog Retin Eye Res 2004
12
OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.
Zhiyin Song, Hsiuchen Chen, Maja Fiket, Christiane Alexander, David C Chan. J Cell Biol 2007
Zhiyin Song, Hsiuchen Chen, Maja Fiket, Christiane Alexander, David C Chan. J Cell Biol 2007
11
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Aurélien Olichon, Thomas Landes, Laetitia Arnauné-Pelloquin, Laurent J Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati-Bonneau, Dominique Bonneau,[...]. J Cell Physiol 2007
Aurélien Olichon, Thomas Landes, Laetitia Arnauné-Pelloquin, Laurent J Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati-Bonneau, Dominique Bonneau,[...]. J Cell Physiol 2007
11
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
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The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission.
Ruchika Anand, Timothy Wai, Michael J Baker, Nikolay Kladt, Astrid C Schauss, Elena Rugarli, Thomas Langer. J Cell Biol 2014
Ruchika Anand, Timothy Wai, Michael J Baker, Nikolay Kladt, Astrid C Schauss, Elena Rugarli, Thomas Langer. J Cell Biol 2014
11
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, Arnaud Chevrollier, Annie Verschueren, Nathalie Bonello-Palot, Konstantina Fragaki, Aline Cano, Jean Pouget, Jean-François Pellissier,[...]. Brain 2012
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, Arnaud Chevrollier, Annie Verschueren, Nathalie Bonello-Palot, Konstantina Fragaki, Aline Cano, Jean Pouget, Jean-François Pellissier,[...]. Brain 2012
11
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre,[...]. Am J Hum Genet 2009
Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre,[...]. Am J Hum Genet 2009
17
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.
Valentina Del Dotto, Prashant Mishra, Sara Vidoni, Mario Fogazza, Alessandra Maresca, Leonardo Caporali, J Michael McCaffery, Martina Cappelletti, Enrico Baruffini, Guy Lenaers,[...]. Cell Rep 2017
Valentina Del Dotto, Prashant Mishra, Sara Vidoni, Mario Fogazza, Alessandra Maresca, Leonardo Caporali, J Michael McCaffery, Martina Cappelletti, Enrico Baruffini, Guy Lenaers,[...]. Cell Rep 2017
11
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.
Bo Young Chun, Joseph F Rizzo. Semin Pediatr Neurol 2017
Bo Young Chun, Joseph F Rizzo. Semin Pediatr Neurol 2017
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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Marcel V Alavi, Stefanie Bette, Simone Schimpf, Frank Schuettauf, Ulrich Schraermeyer, Hans F Wehrl, Lukas Ruttiger, Susanne C Beck, Felix Tonagel, Bernd J Pichler,[...]. Brain 2007
Marcel V Alavi, Stefanie Bette, Simone Schimpf, Frank Schuettauf, Ulrich Schraermeyer, Hans F Wehrl, Lukas Ruttiger, Susanne C Beck, Felix Tonagel, Bernd J Pichler,[...]. Brain 2007
10
Treatment strategies for inherited optic neuropathies: past, present and future.
P Yu-Wai-Man, M Votruba, A T Moore, P F Chinnery. Eye (Lond) 2014
P Yu-Wai-Man, M Votruba, A T Moore, P F Chinnery. Eye (Lond) 2014
11
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency.
Sara Cogliati, Christian Frezza, Maria Eugenia Soriano, Tatiana Varanita, Ruben Quintana-Cabrera, Mauro Corrado, Sara Cipolat, Veronica Costa, Alberto Casarin, Ligia C Gomes,[...]. Cell 2013
Sara Cogliati, Christian Frezza, Maria Eugenia Soriano, Tatiana Varanita, Ruben Quintana-Cabrera, Mauro Corrado, Sara Cipolat, Veronica Costa, Alberto Casarin, Ligia C Gomes,[...]. Cell 2013
10
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion.
Christian Frezza, Sara Cipolat, Olga Martins de Brito, Massimo Micaroni, Galina V Beznoussenko, Tomasz Rudka, Davide Bartoli, Roman S Polishuck, Nika N Danial, Bart De Strooper,[...]. Cell 2006
Christian Frezza, Sara Cipolat, Olga Martins de Brito, Massimo Micaroni, Galina V Beznoussenko, Tomasz Rudka, Davide Bartoli, Roman S Polishuck, Nika N Danial, Bart De Strooper,[...]. Cell 2006
10
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.
Bo Y Chun, Joseph F Rizzo. Curr Opin Ophthalmol 2016
Bo Y Chun, Joseph F Rizzo. Curr Opin Ophthalmol 2016
35
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen,[...]. Neurobiol Dis 2016
Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen,[...]. Neurobiol Dis 2016
27
OPA1 processing in cell death and disease - the long and short of it.
Thomas MacVicar, Thomas Langer. J Cell Sci 2016
Thomas MacVicar, Thomas Langer. J Cell Sci 2016
9
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Stephan Züchner, Irina V Mersiyanova, Maria Muglia, Nisrine Bissar-Tadmouri, Julie Rochelle, Elena L Dadali, Mario Zappia, Eva Nelis, Alessandra Patitucci, Jan Senderek,[...]. Nat Genet 2004
Stephan Züchner, Irina V Mersiyanova, Maria Muglia, Nisrine Bissar-Tadmouri, Julie Rochelle, Elena L Dadali, Mario Zappia, Eva Nelis, Alessandra Patitucci, Jan Senderek,[...]. Nat Genet 2004
9
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.
Aurélien Olichon, Laurent J Emorine, Eric Descoins, Laetitia Pelloquin, Laetitia Brichese, Nicole Gas, Emmanuelle Guillou, Cécile Delettre, Annie Valette, Christian P Hamel,[...]. FEBS Lett 2002
Aurélien Olichon, Laurent J Emorine, Eric Descoins, Laetitia Pelloquin, Laetitia Brichese, Nicole Gas, Emmanuelle Guillou, Cécile Delettre, Annie Valette, Christian P Hamel,[...]. FEBS Lett 2002
9
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
Piero Barboni, Giacomo Savini, Maria Lucia Cascavilla, Leonardo Caporali, Jacopo Milesi, Enrico Borrelli, Chiara La Morgia, Maria Lucia Valentino, Giacinto Triolo, Andrea Lembo,[...]. Am J Ophthalmol 2014
Piero Barboni, Giacomo Savini, Maria Lucia Cascavilla, Leonardo Caporali, Jacopo Milesi, Enrico Borrelli, Chiara La Morgia, Maria Lucia Valentino, Giacinto Triolo, Andrea Lembo,[...]. Am J Ophthalmol 2014
24
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter,[...]. Neurology 2017
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter,[...]. Neurology 2017
17
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Joanna Grenier, Isabelle Meunier, Vincent Daien, Corinne Baudoin, François Halloy, Béatrice Bocquet, Catherine Blanchet, Cécile Delettre, Etienne Esmenjaud, Agathe Roubertie,[...]. Ophthalmology 2016
Joanna Grenier, Isabelle Meunier, Vincent Daien, Corinne Baudoin, François Halloy, Béatrice Bocquet, Catherine Blanchet, Cécile Delettre, Etienne Esmenjaud, Agathe Roubertie,[...]. Ophthalmology 2016
36
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
9
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello,[...]. Orphanet J Rare Dis 2017
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello,[...]. Orphanet J Rare Dis 2017
37
Regulation of mitochondrial morphology through proteolytic cleavage of OPA1.
Naotada Ishihara, Yuu Fujita, Toshihiko Oka, Katsuyoshi Mihara. EMBO J 2006
Naotada Ishihara, Yuu Fujita, Toshihiko Oka, Katsuyoshi Mihara. EMBO J 2006
8
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.