Results 11 to 20 of about 29,975,358 (298)

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

Stem Cell Research, 2016
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM ...
Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls   +4 more
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 (OPA1) is essential for NET formation and antibacterial functions in neutrophils [PDF]

, 2016
The precise nature of anti-bacterial and anti-fungal inflammatory responses has not yet been completely defined. Besides intracellular killing, neutrophils are able to exert an antibacterial effect in the extracellular space by forming so-called neutrophil extracellular traps (NETs) containing released DNA and granule proteins.
Amini, Poorya
openaire   +2 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

[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

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   +7 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

Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1 [PDF]

Movement Disorders Clinical Practice, 2020
AbstractBackgroundSpinocerebellar ataxia type 1 (SCA‐ATXN1) is an inherited progressive ataxia disorder characterized by an adult‐onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.ObjectivesTo describe a retinal phenotype and its functional relevance in SCA‐ATXN1.MethodsWe applied
Oertel, Frederike Cosima, Zeitz, Oliver, Rönnefarth, Maria, Bereuter, Charlotte, Motamedi, Seyedamirhosein, Zimmermann, Hanna G, Kuchling, Joseph, Grosch, Anne Sophie, Doss, Sarah, Browne, Andrew, Paul, Friedemann, Schmitz‐Hübsch, Tanja, Brandt, Alexander U   +12 more
openaire   +4 more sources