Search Results - "PROCACCIO, V"
-
1
Correlation between genetic polymorphisms and stroke recovery: Analysis of the GAIN Americas and GAIN International Studies
Published in European journal of neurology (01-05-2012)“…Background and purpose: Recovery after stroke occurs on the basis of specific molecular events. Genetic polymorphisms associated with impaired neural repair…”
Get full text
Journal Article -
2
The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality
Published in Human reproduction (Oxford) (01-03-2017)“…Abstract STUDY QUESTION Could the mitochondrial DNA (mtDNA) content of cumulus granulosa cells (CGCs) be related to oocyte competence? SUMMARY ANSWER The…”
Get full text
Journal Article -
3
Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells
Published in Human reproduction (Oxford) (01-07-2015)“…STUDY QUESTION What part do mitochondria play in cases of diminished ovarian reserve (DOR)? SUMMARY ANSWER Mitochondrial biogenesis in cumulus cells may be…”
Get full text
Journal Article -
4
Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies
Published in Neuromuscular disorders : NMD (01-12-2022)“…•Heteroplasmy varies not only in different organs but within different muscles•heteroplasmy explains asymmetrical muscle involvement in mitochondrial…”
Get full text
Journal Article -
5
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Published in Brain (London, England : 1878) (01-01-2012)“…MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with…”
Get full text
Journal Article -
6
Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing
Published in Human reproduction (Oxford) (01-10-2017)“…Abstract STUDY QUESTION Does ovarian ageing increase the number of heteroplasmic mitochondrial DNA (mtDNA) point mutations in oocytes? SUMMARY ANSWER Our…”
Get full text
Journal Article -
7
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
Published in Journal of inherited metabolic disease (01-09-2012)“…Mitochondrial complex I is the largest multi-protein enzyme complex of the oxidative phosphorylation system. Seven subunits of this complex are encoded by the…”
Get full text
Journal Article -
8
Targeted metabolomics reveals reduced levels of polyunsaturated choline plasmalogens and a smaller dimethylarginine/arginine ratio in the follicular fluid of patients with a diminished ovarian reserve
Published in Human reproduction (Oxford) (01-11-2017)“…ABSTRACT STUDY QUESTION Does the metabolomic profile of the follicular fluid (FF) of patients with a diminished ovarian reserve (DOR) differ from that of…”
Get full text
Journal Article -
9
The mitochondrial DNA content of cumulus cells may help predict embryo implantation
Published in Journal of assisted reproduction and genetics (01-02-2019)“…Purpose The quantification of mtDNA in cumulus granulosa cells (CGCs) surrounding an oocyte has been positively linked with morphological embryonic quality. In…”
Get full text
Journal Article -
10
Perspectives of drug-based neuroprotection targeting mitochondria
Published in Revue neurologique (01-05-2014)“…Mitochondrial dysfunction has been reported in most neurodegenerative diseases. These anomalies include bioenergetic defect, respiratory chain-induced…”
Get full text
Journal Article -
11
Mitochondrial complex I defect resulting from exercise-induced lower-limb ischemia in patients with peripheral arterial disease
Published in Journal of applied physiology (1985) (01-09-2018)“…This study aims to compare the structural and mitochondrial alterations between muscle segments affected by exercise-induced ischemia and segments of the same…”
Get full text
Journal Article -
12
Key Role of Estrogens and Endothelial Estrogen Receptor α in Blood Flow–Mediated Remodeling of Resistance Arteries
Published in Arteriosclerosis, thrombosis, and vascular biology (01-03-2013)“…OBJECTIVE—Flow- (shear stress–)mediated outward remodeling of resistance arteries is involved in collateral growth during postischemic revascularization. As…”
Get full text
Journal Article -
13
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore
Published in Eye (London) (01-03-2017)“…Purpose Autosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was…”
Get full text
Journal Article -
14
Estrogens are needed for the improvement in endothelium-mediated dilation induced by a chronic increase in blood flow in rat mesenteric arteries
Published in Vascular pharmacology (01-05-2016)“…Abstract Resistance arteries play a key role in the control of local blood flow. They undergo outward remodeling in response to a chronic increase in blood…”
Get full text
Journal Article -
15
Early‐onset Behr syndrome due to compound heterozygous mutations in OPA1
Published in Acta ophthalmologica (Oxford, England) (01-10-2015)“…Summary Behr syndrome is an early‐onset and severe syndromic optic atrophy which is probably heterogeneous. Recently, a heterozygous mutation in OPA1 was…”
Get full text
Journal Article -
16
Deep Sequencing Shows That Oocytes Are Not Prone to Accumulate mtDNA Heteroplasmic Mutations During Ovarian Ageing
Published in Obstetrical & gynecological survey (01-01-2018)“…(Abstracted from Hum Reprod 2017;32(10):2101–2109)This study looks at the effect of ovarian aging on the number of point mutations in oocyte mitochondrial DNA…”
Get full text
Journal Article -
17
SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT
Published in Neurology (26-04-2011)Get full text
Journal Article -
18
Novel pathophysiological mechanisms in dominant optic atrophy beyond the mitochondrial dynamics equilibrium
Published in Acta ophthalmologica (Oxford, England) (01-09-2017)“…Summary Inherited Optic Neuropathies are blinding diseases related to mitochondrial dysfunctions in retinal ganglion cell (RGC). There are two main forms: the…”
Get full text
Journal Article -
19
The genetic pathophysiology of dominant optic atrophy
Published in Acta ophthalmologica (Oxford, England) (01-10-2016)“…Summary Inherited Optic Neuropathies are blinding diseases related to mitochondrial dysfunctions jeopardizing retinal ganglion cell (RGC) survival. There are…”
Get full text
Journal Article -
20
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome
Published in American journal of medical genetics. Part A (15-07-2007)“…Mutations in the WFS1 gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and…”
Get full text
Journal Article