|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological disorder.
|
30972688 |
2019 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.
|
31152339 |
2019 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a clinical diagnosis of ADOA, the cause remains unknown.
|
31298765 |
2019 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
How Mgm1 and OPA1 perform their diverse functions in membrane fusion, scission and cristae organization is at present unknown.
|
31292547 |
2019 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to obtain a better understanding of the genotype-phenotype correlation of the various mutations in the optic atrophy 1 (OPA1) gene, we obtained both clinical and genetic information of ADOA patients from published reports.
|
30165240 |
2019 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We sought to investigate the expression of this pathway along with the expression of mitochondrial biogenesis (PGC-1α [peroxisome proliferator-activated receptor-γ coactivator-1α]), dynamics (DRP-1 [dynamin-related protein 1], OPA-1 [optic atrophy 1], and MFN 2 [mitofusin 2]), and oxidative phosphorylation (citrate synthase and electron transport chain complexes) markers and COX IV (cytochrome C oxidase) activity in myocardium from patients with valvular or ischemic heart disease and heart failure with preserved ejection fraction (HFpEF) or heart failure with reduced ejection fraction (HFrEF).
|
30744415 |
2019 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We hypothesized that the Group VIA Ca<sup>2+</sup>-Independent Phospholipase A<sub>2</sub> (iPLA<sub>2</sub>β)/Cardiolipin(CL)/Opa1 signaling pathway could exert a protective role in T2D by regulating beta-cell apoptosis and that HGSD could inhibit β-cell apoptosis through iPLA<sub>2</sub>β/CL/Opa1 upregulation.
|
31337982 |
2019 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The updated OPA1 database, which registers all the patients from our center as well as those reported in the literature, now covers a total of 831 patients: 697 with isolated dominant optic atrophy (DOA), 47 with DOA "plus", and 83 with asymptomatic or unclassified DOA.
|
31500643 |
2019 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations:</b> ALP: autophagy-lysosome pathway; ARE: antioxidant response element; Atg8a: autophagy-related 8a; ATPsynβ: ATP synthase, β subunit; C-L: caspase-like proteasomal activity; cncC: cap-n-collar isoform-C; CT-L: chymotrypsin-like proteasomal activity; Drp1: dynamin related protein 1; ER: endoplasmic reticulum; foxo: forkhead box, sub-group O; GLU: glucose; GFP: green fluorescent protein; GLY: glycogen; Hsf: heat shock factor; Hsp: Heat shock protein; Keap1: kelch-like ECH-associated protein 1; Marf: mitochondrial assembly regulatory factor; NFE2L2/Nrf2: nuclear factor, erythroid 2 like 2; Opa1: optic atrophy 1; PN: proteostasis network; RNAi: RNA interference; ROS: reactive oxygen species; ref(2)P: refractory to sigma P; SQSTM1: sequestosome 1; SdhA: succinate dehydrogenase, subunit A; T-L: trypsin-like proteasomal activity; TREH: trehalose; UAS: upstream activation sequence; Ub: ubiquitin; UPR: unfolded protein response; UPP: ubiquitin-proteasome pathway.
|
31002009 |
2019 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant optic atrophy (DOA; MIM [Mendelian Inheritance in Man] 165500), resulting in retinal ganglion cell degeneration, is mainly caused by mutations in the optic atrophy 1 (OPA1) gene, which encodes a dynamin guanosine triphosphate (GTP)ase involved in mitochondrial membrane processing.
|
29340645 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hyperoxic PECs exhibited increased phosphorylation of Drp-1 (serine 616), decreases in Mfn1 (mitofusion protein 1), but increases in OPA-1 (optic atrophy 1).
|
29419407 |
2018 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Autosomal dominant optic atrophy (ADOA) is usually caused by mutations in the essential gene, OPA1.
|
30283778 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gene Ontology enrichment analysis revealed that 58 mitochondria-associated proteins were significantly altered, including three subunits of mitochondrial complex I and optic atrophy 1(OPA1).
|
30380148 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.
|
29410463 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
HG-HF significantly depressed expression of PGC-1α (peroxisome proliferator-activated receptor-γ coactivator-1α) and OPA1 (optic atrophy 1) by reducing [Ca<sup>2+</sup>]<sub>i</sub>, whereas OPA1 supplementation partly reversed those detrimental effects induced by TRPV1<sup>-/-</sup> Furthermore, capsaicin treatment not only attenuated CMECs injury induced by HG-HF but also mitigated cardiac microvascular injury induced by T2DM.
|
29735636 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
OPA1 (Optic Atrophy 1) is a multi-isoform dynamin GTPase involved in the regulation of mitochondrial fusion and organization of the cristae structure of the mitochondrial inner membrane.
|
30068998 |
2018 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Standard Sanger sequencing excluded mutations in the OPA1 gene (autosomal-dominant optic atrophy).
|
30260717 |
2018 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation.
|
28926202 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mechanistically, lipid-induced changes in mitochondrial redox status increased mitochondrial fission by increased ubiquitination of AKAP121 (A-kinase anchor protein 121) leading to reduced phosphorylation of DRP1 (dynamin-related protein 1) at Ser637 and altered proteolytic processing of OPA1 (optic atrophy 1).
|
29092894 |
2018 |
|
Optic Atrophy 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
OPA1 haploinsufficient iPSCs differentiated into dopaminergic neurons and exhibited marked reduction in OPA1 protein levels.
|
29604226 |
2018 |
|
Optic Atrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients Materials and Methods: Detailed clinical evaluations were performed and genomic DNA was extracted from peripheral blood for all the participants.
|
29952689 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Idebenone is a hydrophilic short-chain coenzyme (Co) Q analogue, which has been used as a potential bypass of defective complex I in both Leber Hereditary Optic Neuropathy and OPA1-dependent Dominant Optic Atrophy.
|
29694828 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using conditional knockout mice lacking Opa1 in neutrophils (Opa1<sup>N∆</sup>), we report that lack of OPA1 reduces the activity of mitochondrial electron transport complex I in neutrophils.
|
30054480 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
OPA1 is the major gene responsible for Dominant Optic Atrophy (DOA) and the syndromic form DOA "plus".
|
30293569 |
2018 |
|
Optic Atrophy 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The double AFG3L2/YME1L knockdown cells showed marked upregulation of OPA1 protein forms, with the most prominent increase in short OPA1 (optic atrophy 1).
|
30544562 |
2018 |