Results 261 to 270 of about 62,463 (295)

Dominant optic atrophy

Current Opinion in Ophthalmology, 2016
Review recent advances in clinical and experimental studies of dominant optic atrophy (DOA) to better understand the complexities of pathophysiology caused by the optic atrophy 1 (OPA1) mutation.DOA is the most commonly diagnosed inherited optic atrophy, causing progressive bilateral visual loss that begins early in life.
Bo Y, Chun, Joseph F, Rizzo
openaire   +2 more sources

The Role of the Optic Atrophy 1 (OPA1) Protein in Drug‐Induced Liver Injury

The FASEB Journal, 2022
The liver is the metabolic hub, and is responsible for the myriad of processes including the nutrient homeostasis and detoxification. Mitochondria of liver are critical for these functions. The detoxification process in liver, when severe, often results in liver damage through causing oxidative stress.
Hakjoo Lee, Hiromi Sesaki, Yisang Yoon
openaire   +1 more source

A Novel Mutation of the OPA1 Gene in a Japanese Family with Optic Atrophy Type 1

Japanese Journal of Ophthalmology, 2002
To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family.Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.The proband and ...
Satoko, Shimizu, Naoki, Mori, Mari, Kishi, Hirohisa, Sugata, Akiko, Tsuda, Nobue, Kubota   +5 more
openaire   +2 more sources

A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Ophthalmic Genetics, 2023
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) can occur in NF1 patients.
Naoko Fukunaga, Takaaki Hayashi, Yuki Yamada, Kei Mizobuchi, Arihito Ohta, Tadashi Nakano   +5 more
openaire   +2 more sources

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 ...
openaire   +1 more source

A review for the correlation between optic atrophy 1-dependent mitochondrial fusion and cardiovascular disorders

International Journal of Biological Macromolecules
Mitochondrial dynamics homeostasis is sustained by continuous and balanced fission and fusion, which are determinants of morphology, abundance, biogenesis and mitophagy of mitochondria. Optic atrophy 1 (OPA1), as the only inner mitochondrial membrane fusion protein, plays a key role in stabilizing mitochondrial dynamics.
Bi-Feng, Yao, Xiu-Ju, Luo, Jun, Peng
openaire   +2 more sources

Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?: Figure 1

Journal of Medical Genetics, 1999
A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.
A P J Thomson, M Neugebauer, A Fryer
openaire   +1 more source

A Novel Mutation of the Type 1 Optic Atrophy (OPA1) Gene in a Japanese Family with OPA1

Japanese Journal of Ophthalmology, 2003
Purpose : To report a novel mutation of the typel optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family. Methods : Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.
openaire   +1 more source

Optic Atrophy 1–Mediated Mitochondrial Hyperfusion Orchestrates Yes-Associated Protein 1 Nuclear Translocation to Sustain Ameloblastoma Stemness

The American Journal of Pathology
Ameloblastoma (AM), a locally aggressive odontogenic tumor, exhibits elusive pathogenesis. Here, optic atrophy 1 (OPA1)-mediated mitochondrial hyperfusion was identified as a driver of tumor stemness and progression. Single-cell transcriptomics of primary AM specimens revealed mitochondrial fusionHigh epithelial subpopulations exhibiting enriched ...
Jia-Jie, Liang, Rui-Fang, Li, Yi-Han, Bian, Lu-Xuan, Liu, Zhuo-Jian, Li, Bing, Liu, Lin-Zhou, Zhang   +6 more
openaire   +2 more sources

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates

Journal of Neuro-Ophthalmology
Background: Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder classically associated with diabetes mellitus (DM) and optic atrophy (OA). We aimed to characterize OA in WS1 and evaluate optical coherence tomography (OCT) and genetic biomarkers as tools for disease monitoring and prognostication.
Bradley J. McNeely, Abby F. Tang, Fumihiko Urano, Nicholas R. Levergood, Melissa W. Ko, Devin D. Mackay, Gregory P. Van Stavern, Yunshuo Tang   +7 more
openaire   +1 more source