CellsDominant optic atrophy (DOA) is the most commonly inherited optic neuropathy. The majority of DOA is caused by mutations in the OPA1 gene, which encodes a dynamin-related GTPase located to the mitochondrion.
Katherine A. Pohl +5 more
doaj +1 more source
Inhibition of cAMP/PKA Pathway Protects Optic Nerve Head Astrocytes against Oxidative Stress by Akt/Bax Phosphorylation-Mediated Mfn1/2 Oligomerization. [PDF]
, 2019 Glaucoma is characterized by a progressive optic nerve degeneration and retinal ganglion cell loss, but the underlying biological basis for the accompanying neurodegeneration is not known.
Ahn, Sangphil +6 more
core +1 more source
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models [PDF]
, 2018 OPA1 is the major gene responsible for Dominant Optic Atrophy (DOA) and the syndromic form DOA “plus”. Over 370 OPA1 mutations have been identified so far, although their pathogenicity is not always clear.
Aleo, Serena J. +14 more
core +2 more sources
Cell Death and DiseaseIn breast cancer, the inner mitochondrial membrane fusion protein Optic Atrophy 1 (OPA1) is upregulated and its inhibition reverses acquired chemoresistance. However, it remains unclear whether OPA1 inhibition also targets normal breast cells.
Antigoni Diokmetzidou +5 more
doaj +1 more source
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions
Cell Reports, 2017 Summary: OPA1 is a GTPase that controls mitochondrial fusion, cristae integrity, and mtDNA maintenance. In humans, eight isoforms are expressed as combinations of long and short forms, but it is unclear whether OPA1 functions are associated with specific
Valentina Del Dotto +13 more
doaj +1 more source
Regulation of Mitochondrial Dynamics and Neurodegenerative Diseases [PDF]
, 2011 Mitochondria are important cellular organelles in most metabolic processes and have a highly dynamic nature, undergoing frequent fission and fusion. The dynamic balance between fission and fusion plays critical roles in mitochondrial functions. In recent
Fujimura, Atsushi +6 more
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Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research
Mass Spectrometry Reviews, EarlyView.Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik +3 more
wiley +1 more source
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 +1 more source
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy [PDF]
, 2019 The mosaic distribution of cytochrome c oxidase(+) (COX+) and COX - muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Doll, S. +5 more
core +3 more sources
Mass spectrometry‐based mitochondrial proteomics for cancer biomarker discovery
VIEW, EarlyView.Figure.1 Schematic diagram of MS‐based mitochondrial proteomics for cancer biomarker discovery. The workflow highlights the integration of advanced technological platforms in mitochondrial proteomics and their application in cancer biomarker discovery.
Zheng Cao +6 more
wiley +1 more source