Results 21 to 30 of about 62,463 (295)

Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction

Frontiers in Neuroscience, 2020
Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy (DOA), a progressive blinding ...
Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna, Paul Kenna, Gwyneth Jane Farrar   +12 more
doaj   +1 more source

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy [PDF]

, 2020
Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic SLC25A46 mutations (p.H137R, p.A401Sfs*17)
Di Fonzo, Alessio, Straniero, Letizia, Bresolin, Nereo, Ceravolo, Roberto, Taroni, Franco, Comi, Giacomo P, Frosini, Daniela, Monfrini, Edoardo, Duga, Stefano, Corti, Stefania, Malaguti, Maria Chiara, Di Giacopo, Raffaella, Morini, Alberto, Biella, Fabio, Palermo, Giovanni, Ronchi, Dario, Giometto, Bruno, Bitetto, Giacomo   +17 more
core   +2 more sources

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. [PDF]

PLoS Genetics, 2008
Mutations in optic atrophy 1 (OPA1), a nuclear gene encoding a mitochondrial protein, is the most common cause for autosomal dominant optic atrophy (DOA).
Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Carrie B Brachmann, Douglas C Wallace, Taosheng Huang   +8 more
doaj   +1 more source

Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

Journal of Biological Research, 2022
The authors report about the association of progressive external ophthalmoplegia, atypical pigmentary retinopathy, ataxia phenotype with onset in first months of life (Kearns-Sayre syndrome) and with optic nerve atrophy and deafness. The localization of
Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Attilia Piazzi   +3 more
doaj   +1 more source

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]

, 2010
Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Alexander Christiane, Schimpf Simone, Bernd Wissinger, Zrenner, Eberhart, Alavi, M.V., Schimpf, Simone, Auburger Georg, Zrenner, E., Zrenner Eberhart, Schimpf, S., Alavi-Khorassani Moghadam, Marcel Victor, Auburger, Georg, Leo-Kottler, Beate, Marcel V Alavi, Wissinger, Bernd, Christiane Alexander, Nico Fuhrmann, Wissinger, B., Fuhrmann Nico, Beate Leo-Kottler, Alexander, Christiane, Kamenisch, York, Fuhrmann, Nico, Kamenisch, Y., Wissinger Bernd, Auburger, G., Simone Schimpf, Eberhart Zrenner, Georg Auburger, Kamenisch York, York Kamenisch, Alexander, C., Leo-Kottler, B., Leo-Kottler Beate, Alavi Marcel V, Fuhrmann, N.   +35 more
core   +1 more source

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
Cristina Scaduto, Tonon C, Caporali L, NASSETTI, STEFANIA-ALESSANDRA, Daniela Brunetto, Nassetti, Stefania, Raffaele Lodi, Tonon, Caterina, Francesco Toni, Stipa C, Carelli V., D. Brunetto, Antonio Torroni, A. Torroni, Caterina Tonon, Leonardo Caporali, F. Gandini, Chiara La Morgia, Toni, Francesco, Toni F, Nassetti S, Lodi R, Brunetto D, Anna Olivieri, Francesca Gandini, La Morgia C, Brunetto, Daniela, Parmeggiani, Antonia, Carlotta Stipa, Gandini, Francesca, Scaduto C, C. Scaduto, Stefania Nassetti, Valerio Carelli, Stipa, Carlotta, Carelli, Valerio, Scaduto, Cristina, Lodi, Raffaele, La Morgia, Chiara, Antonia Parmeggiani, Caporali, Leonardo, Torroni, Antonio, Olivieri, Anna, A. Olivieri, Parmeggiani A   +44 more
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Homonymous Retinal Ganglion Cell Layer Atrophy With Asymptomatic Optic Tract Glioma in Neurofibromatosis Type I

Frontiers in Neurology, 2020
Approximately 20% of patients with Neurofibromatosis type 1 (NF1) develop optic pathway gliomas (OPGs). Not all OPGs in NF1 necessarily become vision compromising and predicting which patients might develop visual decline is difficult at present time ...
Amirah I. Momen, Ryan T. Muir, Carolina Barnett, Carolina Barnett, Arun N. E. Sundaram, Arun N. E. Sundaram   +5 more
doaj   +1 more source

Optical Coherence Tomography Findings of Nonarteritic Ischemic Optic Neuropathy

Sakarya Tıp Dergisi, 2022
: Objective: To evaluate the optical coherence tomography (OCT) parameters in patients with nonartheritic ischemic optic neuropathy (NAION) and glaucomatous optic atrophy.
Sedat Özmen, Emine Doğan, Burçin Köklü Çakır, Nilgün Özkan, Erkan Çelik   +4 more
doaj   +1 more source

Nogo receptor 1 is expressed by nearly all retinal ganglion cells. [PDF]

PLoS ONE, 2018
A variety of conditions ranging from glaucoma to blunt force trauma lead to optic nerve atrophy. Identifying signaling pathways for stimulating axon growth in the optic nerve may lead to treatments for these pathologies.
Alexander M Solomon, Teleza Westbrook, Greg D Field, Aaron W McGee   +3 more
doaj   +1 more source

Dominant optic atrophy [PDF]

, 2012
DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life.
Lenaers, G, Hamel, C, C. Hamel, Delettre, C, V. Procaccio, D. Bonneau, Amati-Bonneau, P, D. Milea, C. Delettre, Bonneau, D, Milea, D, P. Reynier, P. Amati-Bonneau, Reynier, P, Procaccio, V, G. Lenaers   +15 more
core   +3 more sources