Results 1 to 10 of about 60,483 (156)

The relationship between optic atrophy 1 polymorphism and normal tension glaucoma in Taiwan

Taiwan Journal of Ophthalmology, 2018
PURPOSE: The purpose of this research is to evaluate the relationship between of optic atrophy 1 (OPA1) polymorphism and normal tension glaucoma (NTG) by surveying patients from central Taiwan. This study finding could help us to understand the impact of
Yan-Ting Chen, San-Ni Chen, Chin-San Liu
doaj   +4 more sources

Multi-omics analysis of the oncogenic role of optic atrophy 1 in human cancer. [PDF]

Aging (Albany NY), 2023
To investigate the prognostic significance of optic atrophy 1 (OPA1) in pan-cancer and analyze the relationship between OPA1 and immune infiltration in cancer.OPA1 exhibited high expression levels or mutations in various types of tumor cells, and its expression levels were significantly correlated with the survival rate of tumor patients.
Wu Z, Xu N, Li G, Yang W, Zhang C, Zhong H, Wu G, Chen F, Li D.   +8 more
europepmc   +3 more sources

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review. [PDF]

Genes (Basel), 2022
Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290.
Othman BA, Ong JE, Dumitrescu AV.
europepmc   +3 more sources

Optic Atrophy 1: The Conductor of Cellular Harmony and Age-Related Pathologies. [PDF]

Aging Dis
As the population aging, the prevalence of age-related diseases is also rising. Mitochondrial malfunction is one of the hallmarks of aging, and optic atrophy type 1 (OPA1), a protein found in the inner membrane (IM) of mitochondrial, is essential to this process.
Xu Y, Zhu J, Shao Q, Wang H.
europepmc   +3 more sources

Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. [PDF]

Aging Cell, 2017
SummaryReplicative and chronological lifespan are two different modes of cellular aging. Chronological lifespan is defined as the duration during which quiescent normal cells retain their capacity to re‐enter the proliferative cycle. This study investigated whether changes in metabolism occur during aging of quiescent normal human fibroblasts (NHFs ...
Son JM, Sarsour EH, Kakkerla Balaraju A, Fussell J, Kalen AL, Wagner BA, Buettner GR, Goswami PC.   +7 more
europepmc   +4 more sources

Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation. [PDF]

iScience, 2020
Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output, is known to be crucial for neural development: Opa1 heterozygous mice show abnormal brain development, and inactivating mutations in OPA1 are linked to human neurological disorders.
Caglayan S, Hashim A, Cieslar-Pobuda A, Jensen V, Behringer S, Talug B, Chu DT, Pecquet C, Rogne M, Brech A, Brorson SH, Nagelhus EA, Hannibal L, Boschi A, Taskén K, Staerk J.   +15 more
europepmc   +8 more sources

[Bax inhibitor 1 inhibits vascular calcification in mice by activating optic atrophy 1 expression]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao, 2022
To investigate the effects of Bax inhibitor 1 (BI- 1) and optic atrophy protein 1 (OPA1) on vascular calcification (VC).Mouse models of VC were established in ApoE-deficient (ApoE-/-) diabetic mice by high-fat diet feeding for 12 weeks followed by intraperitoneal injections with Nε-carboxymethyl-lysine for 16 weeks. ApoE-/- mice (control group), ApoE-/-
Chen W, DU H, Qian G, Zhou Y, Chen Y, Ma Q, Wu X, Sha Y.   +7 more
europepmc   +3 more sources

The short variant of optic atrophy 1 (OPA1) improves cell survival under oxidative stress. [PDF]

J Biol Chem, 2020
Optic atrophy 1 (OPA1) is a dynamin protein that mediates mitochondrial fusion at the inner membrane. OPA1 is also necessary for maintaining the cristae and thus essential for supporting cellular energetics. OPA1 exists as membrane-anchored long form (L-OPA1) and short form (S-OPA1) that lacks the transmembrane region and is generated by cleavage of L ...
Lee H, Smith SB, Sheu SS, Yoon Y.
europepmc   +3 more sources

[Research progress of optic atrophy 1-mediated mitochondrial dynamics in skeletal system diseases]. [PDF]

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi, 2023
To review the research progress of mitochondrial dynamics mediated by optic atrophy 1 (OPA1) in skeletal system diseases.The literatures about OPA1-mediated mitochondrial dynamics in recent years were reviewed, and the bioactive ingredients and drugs for the treatment of skeletal system diseases were summarized, which provided a new idea for the ...
Sun K, Wu Y, Zeng Y, Li M, Wu L, Shen B.
europepmc   +3 more sources

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report [PDF]

Frontiers in Neurology
IntroductionCOG5-related congenital disorder of glycosylation (COG5-CDG) is a rare autosomal recessive metabolic disorder with variable neurologic and ophthalmologic involvement.
Katherine Granger, Catherine Do, Catherine Quindipan, Ryan Schmidt, Ryan Schmidt, Mark S. Borchert, Mark S. Borchert, Aaron Nagiel, Aaron Nagiel, Melinda Y. Chang, Melinda Y. Chang   +10 more
doaj   +2 more sources