Lista de obras - Guy Lenaers - Dominio Público Uruguay

A Data Mining Metabolomics Exploration of Glaucoma

artículo científico publicado en 2020

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

artículo científico publicado en 2016

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

artículo científico publicado en 2016

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

artículo científico publicado en 2020

A molecular phylogeny of dinoflagellate protists (pyrrhophyta) inferred from the sequence of 24S rRNA divergent domains D1 and D8.

artículo científico publicado en 1991

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

artículo científico publicado en 2015

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

artículo científico publicado en 2015

A rod-cone dystrophy is systematically associated to the RTN4IP1 recessive optic atrophy

scientific article published on 07 December 2020

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

artículo científico publicado en 2018

Activation of MPF in fission yeast

artículo científico publicado en 1992

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.

artículo científico publicado en 2018

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

artículo científico publicado en 2013

Apisalpha2, Apisalpha7-1 and Apisalpha7-2: three new neuronal nicotinic acetylcholine receptor alpha-subunits in the honeybee brain.

artículo científico publicado en 2005

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2017

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

scientific journal article

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

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

artículo científico publicado en 2016

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

artículo científico publicado en 2016

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

artículo científico publicado en 2016

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

artículo científico publicado en 2017

CLUH couples mitochondrial distribution to the energetic and metabolic status.

artículo científico publicado en 2017

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene

artículo científico publicado en 2012

Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance

artículo científico publicado en 2010

Comparison of primary and secondary 26S rRNA structures in two Tetrahymena species: evidence for a strong evolutionary and structural constraint in expansion segments

artículo científico publicado en 1990

Current mechanistic insights into the CCCP-induced cell survival response

artículo científico publicado en 2017

Cyclin B (p56cdc13) localization in the yeast Schizosaccharomyces pombe: an ultrastructural and immunocytochemical study

scientific article published on 01 January 1996

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

artículo científico publicado en 2018

Dinoflagellates in evolution. A molecular phylogenetic analysis of large subunit ribosomal RNA.

artículo científico publicado en 1989

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

artículo científico publicado en 2020

Dominant optic atrophy.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

artículo científico publicado en 2007

Exploring the pharmacological properties of insect nicotinic acetylcholine receptors

artículo científico publicado en 2006

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network

scientific journal article

First characterization of LHON pedigrees in North Africa

artículo científico publicado en 2020

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus

artículo científico publicado en 2003

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

artículo científico publicado en 2013

Glycosylation as new pharmacological strategies for diseases associated with excessive angiogenesis

artículo científico publicado en 2018

Hereditary optic neuropathies: from clinical signs to diagnosis

artículo científico publicado en 2013

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

scientific article published on 27 July 2019

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

artículo científico publicado en 2006

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

artículo científico publicado en 2017

Identification and localization of the nicotinic acetylcholine receptor alpha3 mRNA in the brain of the honeybee, Apis mellifera

artículo científico publicado en 2003

Identification and transcription control of fission yeast genes repressed by an ammonium starvation growth arrest

artículo científico publicado en 2000

Identification of rpaP1-5 and rpaP2-6 genes encoding two additional variants of the 60S acidic ribosomal proteins of Schizosaccharomyces pombe

artículo científico publicado en 2000

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

artículo científico publicado en 2014

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

artículo científico publicado en 2015

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

artículo científico publicado en 2016

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

artículo científico publicado en 2017

Isopropyl-phloroglucinol-DHA protects outer retinal cells against lethal dose of all-trans-retinal

artículo científico publicado en 2020

Lactic Acidosis Together with GM-CSF and M-CSF Induces Human Macrophages toward an Inflammatory Protumor Phenotype

scientific article published on 10 January 2020

Light action spectrum on oxidative stress and mitochondrial damage in A2E-loaded retinal pigment epithelium cells.

artículo científico publicado en 2018

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

artículo científico publicado en 2003

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

artículo científico publicado en 2016

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights

artículo científico publicado en 2016

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population

artículo científico publicado en 2015

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

artículo científico publicado en 2017

Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity

artículo científico publicado en 2020

Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice

scientific article published on 23 September 2019

Microcebus murinus retina: a new model to assess prion-related neurotoxicity in primates.

artículo científico publicado en 2010

Mitochondrial dynamics and disease, OPA1

artículo científico publicado en 2006

Mitochondrial fusion is frequent in skeletal muscle and supports excitation-contraction coupling

artículo científico publicado en 2014

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

artículo científico publicado en 2012

Molecular phylogeny of some polychaete annelids: an initial approach to the Atlantic-Mediterranean speciation problem

artículo científico publicado en 1992

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Mutation spectrum and splicing variants in the OPA1 gene

artículo científico publicado en 2001

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

artículo científico publicado en 2020

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

artículo científico publicado en 2015

Neurotoxicity of insecticides

artículo científico publicado en 2017

Neurotoxicity of pesticides: its relationship with neurodegenerative diseases

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

artículo científico publicado en 2017

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

artículo científico publicado en 2017

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

artículo científico publicado en 2000

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

artículo científico publicado en 2002

OPA1 (dys)functions.

artículo científico publicado en 2010

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

artículo científico publicado en 2017

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

artículo científico publicado en 2005

OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis

artículo científico publicado en 2006

OPA1 cleavage depends on decreased mitochondrial ATP level and bivalent metals

scientific article published on 19 August 2007

OPA1 functions in mitochondria and dysfunctions in optic nerve.

artículo científico publicado en 2009

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

artículo científico publicado en 2018

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

artículo científico publicado en 2010

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

artículo científico publicado en 2008

OPA1-associated disorders: phenotypes and pathophysiology.

artículo científico publicado en 2009

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

scientific article published on 23 August 2015

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

scientific article published on 10 September 2019

OPA1: how much do we know to approach therapy?

artículo científico publicado en 2018

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

artículo científico publicado en 2004

OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

artículo científico publicado en 2012

Optic Atrophy Type 1

artículo científico publicado en 1993

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

artículo científico publicado en 2015

Pyp3 PTPase acts as a mitotic inducer in fission yeast.

artículo científico publicado en 1992

REMOTE ISCHEMIC CONDITIONING INFLUENCES MITOCHONDRIAL DYNAMICS.

artículo científico publicado en 2015

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

artículo científico publicado en 2015

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

artículo científico publicado en 2015

Reply: The expanding neurological phenotype of DNM1L-related disorders

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Reversible optic neuropathy with OPA1 exon 5b mutation

scientific article published on 01 May 2008

Sensorineural hearing loss in OPA1-linked disorders.

artículo científico publicado en 2013

Study of mitochondrial function in placental insufficiency

artículo científico publicado en 2018

Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1

artículo científico publicado en 2022

TRPV4 channels mediate the infrared laser-evoked response in sensory neurons.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

The Metabolomic Signature of Opa1 Deficiency in Rat Primary Cortical Neurons Shows Aspartate/Glutamate Depletion and Phospholipids Remodeling

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

artículo científico publicado en 2012

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space

artículo científico publicado en 2002

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

artículo científico publicado en 2016

The secondary structure of large-subunit rRNA divergent domains, a marker for protist evolution

scientific article published on 01 January 1988

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

artículo científico publicado en 2016

What similarity between human and fission yeast proteins is required for orthology?

artículo científico publicado en 2002

Why mitochondria must fuse to maintain their genome integrity

artículo científico publicado en 2013

[A murine model of transitory optic neuropathy based on small interference RNA-induced OPA1 silencing in vivo (gene mutation associated with Kjer's disease)]

artículo científico publicado en 2006

[Cellular senescence and the myth of Janus].

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

p80cdc25 mitotic inducer is the tyrosine phosphatase that activates p34cdc2 kinase in fission yeast

artículo científico publicado en 1991

Lista de obras de Guy Lenaers

A Data Mining Metabolomics Exploration of Glaucoma

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

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

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 dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

A molecular phylogeny of dinoflagellate protists (pyrrhophyta) inferred from the sequence of 24S rRNA divergent domains D1 and D8.

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

A rod-cone dystrophy is systematically associated to the RTN4IP1 recessive optic atrophy

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Activation of MPF in fission yeast

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

Apisalpha2, Apisalpha7-1 and Apisalpha7-2: three new neuronal nicotinic acetylcholine receptor alpha-subunits in the honeybee brain.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

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

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

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

CLUH couples mitochondrial distribution to the energetic and metabolic status.

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene

Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance

Comparison of primary and secondary 26S rRNA structures in two Tetrahymena species: evidence for a strong evolutionary and structural constraint in expansion segments

Current mechanistic insights into the CCCP-induced cell survival response

Cyclin B (p56cdc13) localization in the yeast Schizosaccharomyces pombe: an ultrastructural and immunocytochemical study

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

Dinoflagellates in evolution. A molecular phylogenetic analysis of large subunit ribosomal RNA.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Dominant optic atrophy.

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

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

Exploring the pharmacological properties of insect nicotinic acetylcholine receptors

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network

First characterization of LHON pedigrees in North Africa

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

Glycosylation as new pharmacological strategies for diseases associated with excessive angiogenesis

Hereditary optic neuropathies: from clinical signs to diagnosis

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Identification and localization of the nicotinic acetylcholine receptor alpha3 mRNA in the brain of the honeybee, Apis mellifera

Identification and transcription control of fission yeast genes repressed by an ammonium starvation growth arrest

Identification of rpaP1-5 and rpaP2-6 genes encoding two additional variants of the 60S acidic ribosomal proteins of Schizosaccharomyces pombe

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

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

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Isopropyl-phloroglucinol-DHA protects outer retinal cells against lethal dose of all-trans-retinal

Lactic Acidosis Together with GM-CSF and M-CSF Induces Human Macrophages toward an Inflammatory Protumor Phenotype

Light action spectrum on oxidative stress and mitochondrial damage in A2E-loaded retinal pigment epithelium cells.

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity

Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice

Microcebus murinus retina: a new model to assess prion-related neurotoxicity in primates.

Mitochondrial dynamics and disease, OPA1

Mitochondrial fusion is frequent in skeletal muscle and supports excitation-contraction coupling

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

Molecular phylogeny of some polychaete annelids: an initial approach to the Atlantic-Mediterranean speciation problem

Multi-system neurological disease is common in patients with OPA1 mutations

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

Mutation spectrum and splicing variants in the OPA1 gene

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

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

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

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

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

Neurotoxicity of insecticides