List of works - Vincent Procaccio

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

scientific article published on 01 September 2018

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning

scientific article

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

scientific article published in January 2018

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

scientific article published in February 2018

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

scientific article published on 26 December 2011

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

article

A nonradioactive double detection method for the assignment of spots in two-dimensional blots

scientific article published on 01 August 1997

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

scientific article published on 01 January 2007

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

scientific article

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

scientific article

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

scientific article

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

scientific article published on 4 April 2017

BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex.

scientific article published on 7 May 2006

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

scientific article published on 01 February 2011

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

scholarly article by Céline Bris et al published 2018 in Frontiers in Genetics

CLUH couples mitochondrial distribution to the energetic and metabolic status.

scientific article published on 19 April 2017

Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone

scientific article

Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase

scientific article

Correlation between genetic polymorphisms and stroke recovery: analysis of the GAIN Americas and GAIN International Studies.

scientific article published on 4 January 2012

Current mechanistic insights into the CCCP-induced cell survival response

scientific article

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

scientific article published on 17 February 2018

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

scientific article published on 26 August 2019

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing.

scientific article published in October 2017

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

scientific article published in January 2006

Determinants of flow-mediated outward remodeling in female rodents: respective roles of age, estrogens, and timing

scientific article

Dominant optic atrophy.

scientific article

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

scientific article (publication date: October 2014)

Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels

scientific journal article

Estrogen suppresses brain mitochondrial oxidative stress in female and male rats.

scientific article

Estrogens are needed for the improvement in endothelium-mediated dilation induced by a chronic increase in blood flow in rat mesenteric arteries.

scientific article published on 12 October 2015

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

scientific article published on 10 November 2009

From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders

scientific article published in October 2010

Genomic and non-genomic regulation of PGC1 isoforms by estrogen to increase cerebral vascular mitochondrial biogenesis and reactive oxygen species protection

scientific article

Genomic structure of the human NDUFS8 gene coding for the iron–sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase ⬇️

scientific article published on July 17, 1998

Heme oxygenase-1 induction restores high-blood-flow-dependent remodeling and endothelial function in mesenteric arteries of old rats.

scientific article published on January 2011

Hereditary optic neuropathies share a common mitochondrial coupling defect.

scientific article published in June 2008

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

scientific article

High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.

scientific article

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

scientific article

How Can a Ketogenic Diet Improve Motor Function?

scientific article published on 26 January 2018

IL-26 Confers Proinflammatory Properties to Extracellular DNA.

scientific article published on 29 March 2017

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

scientific article

Identification of five Rhodobacter capsulatus genes encoding the equivalent of ND subunits of the mitochondrial NADH-ubiquinone oxidoreductase.

scientific article published on December 1995

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

scientific article published on 01 July 2007

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

scientific article

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

scientific article published on 5 October 2016

Iron deficiency without anemia is responsible for decreased left ventricular function and reduced mitochondrial complex I activity in a mouse model

scientific article published on 01 September 2018

Is ABCC6 a genuine mitochondrial protein?

scientific article published on 23 October 2013

Key role of estrogens and endothelial estrogen receptor α in blood flow-mediated remodeling of resistance arteries.

scientific article published on 3 January 2013

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

scientific article

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

scientific article

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

scientific article published on March 1995

Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria ⬇️

scientific article published on June 1, 1998

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

scientific article

Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease

scientific article published on 24 May 2018

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

scientific article published on 17 December 2008

Mitochondrial dysfunction affecting visual pathways

scientific article published on 03 May 2014

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

scientific article published on 21 September 2010

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

scientific article

Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells.

scientific article published on 19 March 2008

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

scientific article

Mitochondrial macro-haplogroup JT may play a protective role in ovarian ageing

scientific article published on 14 August 2014

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

scientific article published on 26 April 2006

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

scientific article published in July 2009

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

scientific article

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.

scientific article

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

scientific article

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

scientific article

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

scientific article published on 3 October 2017

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

scientific article

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

scientific article

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

scientific article published on 27 November 2017

Neurotoxicity of insecticides

scientific article

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

scientific article published on 03 November 2018

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

scientific article published on 11 December 2017

OPA1-associated disorders: phenotypes and pathophysiology.

scientific article published on 21 April 2009

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

scientific article

Ovarian ageing: the role of mitochondria in oocytes and follicles.

scientific article published on 25 August 2016

Perspectives of drug-based neuroprotection targeting mitochondria.

scientific article published on May 2014

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

scientific article

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

scientific article

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

scientific article

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy

scientific article published on 06 November 2007

Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.

scientific article

Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease

scientific article published on 01 January 2006

Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells.

scientific article

Reply: The expanding neurological phenotype of DNM1L-related disorders

scientific article published on 01 April 2018

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice

scientific article (publication date: 2015)

Resveratrol Improved Flow-Mediated Outward Arterial Remodeling in Ovariectomized Rats with Hypertrophic Effect at High Dose.

scientific article published on 6 January 2016

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

scientific article

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers

scientific article published on 01 March 2019

Reversible optic neuropathy with OPA1 exon 5b mutation

scientific article published on 01 May 2008

Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells

scientific article

Sensorineural hearing loss in OPA1-linked disorders.

scientific article

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup ⬇️

scientific article published on February 11, 2013

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

scientific article published on 01 April 2011

Skeletal muscle transcriptional coactivator PGC-1α mediates mitochondrial, but not metabolic, changes during calorie restriction

scientific article published on 3 February 2012

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

scientific article published on 09 September 2020

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

scientific article published on 17 March 2012

Study of mitochondrial function in placental insufficiency

scientific article published on 17 May 2018

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

scientific article

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

scientific article published in February 2017

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

scientific article published on 13 October 2017

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

scientific article published on 20 December 2011

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

scientific article published on 01 August 2018

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

scientific article published on 14 February 2018

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

scientific article published in November 2016

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

scientific article published on 15 September 2016

The mitochondrial DNA content of cumulus cells may help predict embryo implantation

scientific article published on 25 October 2018

The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality

scientific article published on 6 January 2017

Toward a mtDNA locus-specific mutation database using the LOVD platform

scientific article

Two‐dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: Toward a human mitochondrial proteome ⬇️

scientific article published on May 1, 1998

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

scientific article published on 18 July 2007

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

scientific article published on June 2015

[Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia]

scientific article published on 01 January 2006

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]

scientific article published on 12 November 2018

cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

scientific article

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

scientific article published on 05 November 2018

mtDNA Variation and Analysis Using Mitomap and Mitomaster

scientific article

List of works by Vincent Procaccio

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

A nonradioactive double detection method for the assignment of spots in two-dimensional blots

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

CLUH couples mitochondrial distribution to the energetic and metabolic status.

Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone

Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase

Correlation between genetic polymorphisms and stroke recovery: analysis of the GAIN Americas and GAIN International Studies.

Current mechanistic insights into the CCCP-induced cell survival response

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing.

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Determinants of flow-mediated outward remodeling in female rodents: respective roles of age, estrogens, and timing

Dominant optic atrophy.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels

Estrogen suppresses brain mitochondrial oxidative stress in female and male rats.

Estrogens are needed for the improvement in endothelium-mediated dilation induced by a chronic increase in blood flow in rat mesenteric arteries.

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders

Genomic and non-genomic regulation of PGC1 isoforms by estrogen to increase cerebral vascular mitochondrial biogenesis and reactive oxygen species protection

Genomic structure of the human NDUFS8 gene coding for the iron–sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase ⬇️

Heme oxygenase-1 induction restores high-blood-flow-dependent remodeling and endothelial function in mesenteric arteries of old rats.

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

How Can a Ketogenic Diet Improve Motor Function?

IL-26 Confers Proinflammatory Properties to Extracellular DNA.

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Identification of five Rhodobacter capsulatus genes encoding the equivalent of ND subunits of the mitochondrial NADH-ubiquinone oxidoreductase.

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

Iron deficiency without anemia is responsible for decreased left ventricular function and reduced mitochondrial complex I activity in a mouse model

Is ABCC6 a genuine mitochondrial protein?

Key role of estrogens and endothelial estrogen receptor α in blood flow-mediated remodeling of resistance arteries.

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria ⬇️

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Mitochondrial dysfunction affecting visual pathways

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells.

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

Mitochondrial macro-haplogroup JT may play a protective role in ovarian ageing

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Neurotoxicity of insecticides

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

OPA1-associated disorders: phenotypes and pathophysiology.