Results 31 to 40 of about 90,641 (320)

Generation and analysis of OPA1 (optic atrophy 1)-deficient mice

, 2007
Optische Atrophie 1 (OPA1) ist eine Dynamin-verwandte GTPase, die in die Mitochondrien importiert wird. Mutationen im OPA1 Gen führen zur Erblindung in Patienten mit autosomal dominant erblicher Optikusatrophie (adOA). Als Pathomechanismus für die adOA wurde Haploinsuffizienz postuliert, die zu einem Verlust an retinalen Ganglienzellen führt und in ...
Maja Fiket
openalex   +3 more sources

Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency [PDF]

Cell Death & Differentiation, 2012
Mitochondrial complex I dysfunction has long been associated with Parkinson's disease (PD). Recent evidence suggests that mitochondrial involvement in PD may extend beyond a sole respiratory deficit and also include perturbations in mitochondrial fusion/fission or ultrastructure.
David Ramonet, Céline Perier, Ariadna Recasens, Benjamin Dehay, Jordi Bové, Veronica Costa, Luca Scorrano, Miquel Vila   +7 more
openalex   +5 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

Primary radiotherapy in progressive optic nerve sheath meningiomas: a long-term follow-up study [PDF]

, 2010
Background/aims: To report the outcome of primary radiotherapy in patients with progressive optic nerve sheath meningioma (ONSM). Methods: The clinical records of all patients were reviewed in a retrospective, observational, multicentre study.
Blank, L., Geskus, R., Mourits, M., Nowak, P., Rootman, J., Saeed, P., Selva-Nayagam, D., Weis, E., Wolbers, J.   +8 more
core   +7 more sources

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Molecular vision, 2013
Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy.A cohort of 193 Chinese families with suspected ...
Yabin Chen, Xiaoyun Jia, Panfeng Wang, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang   +6 more
openalex   +3 more sources

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. [PDF]

, 2012
BackgroundMitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy.
Bers, Donald M, Chen, Le, Chiamvimonvat, Nipavan, Cortopassi, Gino, Davies, Vanessa, Knowlton, Anne A, Liu, Tingting, Lu, Xiyuan, Tomilov, Alexey A, Tran, Alice, Votruba, Marcela   +10 more
core   +2 more sources

Progressive ataxia with oculo-palatal tremor and optic atrophy [PDF]

, 2013
The final publication is available at Springer via doi: 10.​1007/​s00415-013-7136-
A. M. Bronstein, C Morgia, C. Everett, E Storey, G Deuschl, I. Peppas, K. Schmierer, KK Johansen, KL Howard, LI Lopez, M Samuel, M. M. Papachatzaki, N. Ali, P Amati-Bonneau, Q. Arshad, RK Naviaux, S Stricker, S. Cader   +17 more
core   +1 more source

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