Reply: Sensorineural hearing loss in OPA1-linked disorders [PDF]
ARTICLE Sir, Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy seen in clinical practice, and in >60% of cases, the underlying genetic defect is a pathogenic mutation within the OPA1 gene (Ferre et al. , 2009; Yu-Wai-Man et al. , 2010 a ). The pathological hallmark of this disorder is the preferential loss of retinal
Yu-Wai-Man, Patrick +1 more
openaire +2 more sources
The power of many: when genetics met yeasts and high‐throughput
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley +1 more source
Neuroprotective effects of the immunomodulatory drug FK506 in a model of HIV1-gp120 neurotoxicity. [PDF]
BackgroundHIV-associated neurocognitive disorders (HAND) continue to be a common morbidity associated with chronic HIV infection. It has been shown that HIV proteins (e.g., gp120) released from infected microglial/macrophage cells can cause neuronal ...
Achim, Cristian +9 more
core +1 more source
The Metabolic Role of Mitochondria in the Perinatal Cardiac Development and Cardiovascular Diseases
This review explores the critical role of mitochondria in heart development and cardiovascular disease. It highlights how mitochondrial maturation during embryonic‐to‐postnatal transition, regulated by oxygen and metabolic changes, shapes cardiac structure and function.
Minghao Li +3 more
wiley +1 more source
Background & objectives: Non-alcoholic fatty liver disease (NAFLD) is associated with mitochondrial dysfunction. The aim of the present study was to examine the effect of aerobic training along with resveratrol on cardiac expression of OPA1 and DRP1 in ...
hasan delroz +3 more
doaj
OPA1 functions in mitochondria and dysfunctions in optic nerve [PDF]
OPA1 is the major gene responsible for Dominant Optic Atrophy (DOA), a blinding disease that affects specifically the retinal ganglion cells (RGCs), which function consists in connecting the neuro-retina to the brain.
A. Olichon +9 more
core +3 more sources
HIF1α-dependent mitophagy facilitates cardiomyoblast differentiation [PDF]
Mitophagy is thought to play a key role in eliminating damaged mitochondria, with diseases such as cancer and neurodegeneration exhibiting defects in this process.
Allen, George F. G. +4 more
core +3 more sources
Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency [PDF]
AbstractMutations in the opa1 (optic atrophy 1) gene lead to autosomal dominant optic atrophy (ADOA), a hereditary eye disease. This gene encodes the Opa1 protein, a mitochondrial dynamin-related GTPase required for mitochondrial fusion and the maintenance of normal crista structure. The majority of opa1 mutations encode truncated forms of the protein,
Kushnareva, Y. +6 more
openaire +2 more sources
Joint measurement of multiple noncommuting parameters [PDF]
Although quantum metrology allows us to make precision measurements beyond the standard quantum limit, it mostly works on the measurement of only one observable due to the Heisenberg uncertainty relation on the measurement precision of noncommuting ...
Assad, Syed M. +6 more
core +3 more sources
OPA1 Controls Apoptotic Cristae Remodeling Independently from Mitochondrial Fusion [PDF]
Mitochondria amplify activation of caspases during apoptosis by releasing cytochrome c and other cofactors. This is accompanied by fragmentation of the organelle and remodeling of the cristae. Here we provide evidence that Optic Atrophy 1 (OPA1), a profusion dynamin-related protein of the inner mitochondrial membrane mutated in dominant optic atrophy ...
Frezza, Christian +10 more
openaire +5 more sources

