NUNES MARTINEZ, VIRGINIA
iMarina ID: 04-270057Genes, Disease and Therapy Program. Institut d'Investigació Biomèdica de Bellvitge.
Human Molecular Genetics. Institut d'Investigació Biomèdica de Bellvitge.
vnunes@idibell.cat
Identification code
Timeline
May of 1988
PhD: El Empleo de las Técnicas de ADN Recombinante en el Estudio de las Hemofilias A y B.
Universidad Autónoma de Barcelona
Timeline
July of 2016
Program Coordinator
Institut d'Investigació Biomèdica de Bellvitge. Genes, Disease and Therapy Program
2016 -
January of 2001
Investigadora Senior /Cap de Departament CGMM. IRO - IDIBELL
IRO - IDIBELL
2001 -
January of 1999
Group leader
Institut d'Investigació Biomèdica de Bellvitge. Human Molecular Genetics
1999 -
January of 1990
Investigadora senior. IRO
IRO
1990 -
January of 1985
Investigadora senior. FISP Hospital de Sant Pau
FISP Hospital de Sant Pau
1985 -
January of 1985
Stagiaire. Inserm U91 Créteil (Francia)
Inserm U91 Créteil (Francia)
1985 -
January of 1983
Becaria Investigación. Hospital de Sant Pau
Hospital de Sant Pau
1983 -
January of 1980
Becaria Servicio Hematologia. Hospital de Sant Pau
Hospital de Sant Pau
1980 -
Scholastic Acknowledgment
Research Acknowledgment
Almetrics publications
| 2020 | Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencep... | |
| 2020 | Choroid plexus LAT2 and SNAT3 as partners in CSF amino acid homeostasis maintena... | |
| 2019 | Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse a... | |
| 2019 | Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopat... | |
| 2019 | Differences in expression rather than methylation at placenta-specific imprinted... | |
| 2018 | Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption... | |
| 2018 | Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemic... | |
| 2018 | Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene invo... | |
| 2018 | GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications ... | |
| 2017 | Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 ... | |
| 2017 | Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and ... | |
| 2016 | Novel cystine transporter in renal proximal tubule identified as a missing partn... | |
| 2015 | Identification of small-molecule inhibitors of calcineurin-NFATc signaling that ... | |
| 2015 | Digenic inheritance in cystinuria mouse model | |
| 2014 | Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase)... | |
| 2014 | Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates g... | |
| 2014 | Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails gl... | |
| 2014 | Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppr... | |
| 2013 | Differential cystine and dibasic amino acid handling after loss of function of t... | |
| 2013 | EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome a... | |
| 2013 | Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for prope... | |
| 2013 | Genotypic classification of patients with Wolfram syndrome: insights into the na... | |
| 2013 | Protein kinase CK2-dependent phosphorylation of the human Regulators of NFATc si... | |
| 2012 | GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel... | |
| 2012 | Cystinuria | |
| 2012 | BootstRatio: A web-based statistical analysis of fold-change in qPCR and RT-qPCR... | |
| 2012 | EURO-WABB: a European rare disease database for Wolfram, Alstroem, Bardet-Biedl ... | |
| 2012 | Clinical utility gene card for: Cystinuria | |
| 2011 | Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cyst... | |
| 2011 | Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease c... | |
| 2011 | Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoence... | |
| 2010 | Metabonomics and population studies: age-related amino acids excretion and infer... | |
| 2010 | Pathophysiology and treatment of cystinuria | |
| 2009 | Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients invo... | |
| 2008 | Genetic and genomic analysis modeling of germline c-MYC overexpression and cance... | |
| 2008 | Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical c... | |
| 2008 | Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes ... | |
| 2007 | Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacologic... | |
| 2007 | Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: A possible s... | |
| 2006 | Identification of somatic and germline mitochondrial DNA sequence variants in pr... | |
| 2006 | Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopat... | |
| 2005 | Gene symbol: SLC3A1 | |
| 2005 | The genetics of heteromeric amino acid transporters | |
| 2005 | Mitochondrial respiratory chain in brain homogenates: activities in different br... | |
| 2005 | New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, ... | |
| 2005 | Expression of mitochondrial genes and transcription estimation in different brai... | |
| 2005 | Tissue imprints or primary cultures - Which strategy to use to study cytogenetic... | |
| 2004 | First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 ... | |
| 2004 | The amino acid transporter asc-1 is not involved in cystinuria | |
| 2004 | Thiol Modification of Cysteine 327 in the Eighth Transmembrane Domain of the Lig... | |
| 2004 | Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) ge... | |
| 2004 | Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome familie... | |
| 2003 | Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis | |
| 2003 | Short communication: reversible mitochondrial respiratory chain impairment durin... | |
| 2003 | The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the develop... | |
| 2003 | Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway ep... | |
| 2002 | Quantitative assessment of chimeraplast stability in biological fluids by polyac... | |
| 2002 | Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts i... | |
| 2002 | Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: A need fo... | |
| 2002 | WFS1 mutations in Spanish patients with diabetes mellitus and deafness | |
| 2001 | Cystinuria type I: Identification of eight new mutations in SLC3A1 | |
| 2001 | Is there a relation between Alzheimer''s disease and defects of mitochondrial DN... | |
| 2001 | Is mitochondrial DNA depletion involved in Alzheimer''s disease? | |
| 2001 | ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intest... | |
| 2001 | Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation i... | |
| 2001 | Presence of a major WFS1 mutation in Spanish Wolfram Syndrome pedigrees | |
| 2001 | Analysis of mtDNA point mutations A3243G, C3256T and mtDNA deletions in 41 diabe... | |
| 2001 | Mitochondrial involvement in antiretroviral therapy-related lipodystrophy | |
| 2000 | Respiratory chain dysfunction associated with multiple mitochondrial DNA deletio... | |
| 2000 | Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescen... | |
| 1999 | Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intoleran... | |
| 1999 | Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)A... | |
| 1999 | Absence of mitochondrial dysfunction in polymyalgia rheumatica. Evidence based o... | |
| 1999 | Recombinant families locate the gene for non-type I cystinuria between markers C... | |
| 1998 | Testicular CFTR splice variants in patients with congenital absence of the vas d... | |
| 1998 | Biochemical and molecular effects of chronic haloperidol administration on brain... | |
| 1997 | Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with ... | |
| 1997 | Preliminary report - Respiratory chain activity and mitochondrial DNA content of... | |
| 1997 | Qualitative and quantitative changes in skeletal muscle mtDNA and expression of ... | |
| 1997 | Missense mutation R1066C in the second transmembrane domain of CFTR causes a sev... | |
| 1997 | Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA... | |
| 1997 | High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account... | |
| 1996 | Molecular analysis of the cystinuria disease gene: Identification of four new mu... | |
| 1996 | The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients wit... | |
| 1996 | Genomic structure and organization of the human rBAT gene (SLC3A1) | |
| 1996 | A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA de... | |
| 1996 | Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population | |
| 1996 | The rBAT gene is responsible for L-cystine uptake via the b0,+-like amino acid t... | |
| 1996 | The molecular basis of cystinuria: the role of the rBAT gene. | |
| 1995 | GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NO... | |
| 1995 | Mutations in the cystic fibrosis gene in patients with congenital absence of the... | |
| 1995 | CLINICAL CHARACTERISTICS OF 16 CYSTIC-FIBROSIS PATIENTS WITH THE MISSENSE MUTATI... | |
| 1995 | The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurre... | |
| 1995 | EXTENSIVE ANALYSIS OF 40 INFERTILE PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-D... | |
| 1995 | Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 a... | |
| 1994 | A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: D... | |
| 1994 | Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish... | |
| 1994 | ANALYSIS OF THE CFTR GENE IN THE SPANISH POPULATION - SSCP-SCREENING FOR 60 KNOW... | |
| 1994 | CYSTIC-FIBROSIS IN A LOW-INCIDENCE POPULATION - 2 MAJOR MUTATIONS IN FINLAND | |
| 1994 | THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULA... | |
| 1994 | MULTIPLE DELETIONS OF MTDNA IN 2 BROTHERS WITH SIDEROBLASTIC ANEMIA AND MITOCHON... | |
| 1994 | CYSTINURIA CAUSED BY MUTATIONS IN RBAT, A GENE INVOLVED IN THE TRANSPORT OF CYST... | |
| 1993 | IDENTIFICATION OF A 31-BP INSERTION (3860INS31) IN EXON-20 OF THE CYSTIC-FIBROSI... | |
| 1993 | MICROSATELLITE HAPLOTYPES FOR CYSTIC-FIBROSIS - MUTATION FRAMEWORKS AND EVOLUTIO... | |
| 1993 | A NEW MISSENSE MUTATION (E92K) IN THE 1ST TRANSMEMBRANE DOMAIN OF THE CFTR GENE ... | |
| 1993 | IDENTIFICATION OF A NEW MISSENSE MUTATION (P205S) IN THE 1ST TRANSMEMBRANE DOMAI... | |
| 1993 | Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (C... | |
| 1993 | Haplotype analysis to determine the position of a mutation among closely linked ... | |
| 1993 | Isolation and Characterization of 14 CA-Repeat Microsatellites from Human Chromo... | |
| 1993 | Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean ... | |
| 1993 | Detection of human papillomavirus 16 and 18 DNA in epithelial lesions of the low... | |
| 1992 | A RARE DNA VARIANT IN EXON-15 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE R... | |
| 1992 | Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis tr... | |
| 1992 | Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene hav... | |
| 1992 | Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene ... | |
| 1991 | Mutation and linkage disequilibrium analysis in genetic counselling of Spanish c... | |
| 1991 | Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (C... | |
| 1991 | CA GT Microsatellite alleles within the cystic fibrosis transmembrane conductanc... | |
| 1991 | Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsate... | |
| 1991 | Analysis of 14 cystic fibrosis mutations in five South European populations | |
| 1991 | Genetic analysis of cystic fibrosis | |
| 1991 | HIGH CONSERVATION OF SEQUENCES INVOLVED IN CYSTIC-FIBROSIS MUTATIONS IN 5 MAMMAL... | |
| 1991 | PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS BY SIMULTANEOUS ANALYSIS OF 2 DIFFERENT MU... | |
| 1991 | The search for South European cystic fibrosis mutations: Identification of two n... | |
| 1991 | SSCP-polymorphism in intron 12 of the CFTR gene recognized by bcll | |
| 1990 | The genotype of a new linked DNA marker, MP6d-9, is related to the clinical cour... | |
| 1990 | ? F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Sp... | |
| 1990 | Mutation Analysis in Cystic Fibrosis | |
| 1990 | A polymorphic DNA probe from chromosome 7 (7q22) | |
| 1990 | PCR detection of the pKM.19/Scrfl RFLP (D7S23), a marker closely linked to the c... | |
| 1990 | Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families | |
| 1990 | Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19)... | |
| 1989 | Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis l... | |
| 1989 | LINKAGE DISEQUILIBRIUM FOR DNA HAPLOTYPES NEAR THE CYSTIC-FIBROSIS LOCUS IN 2 SO... | |
| 1989 | ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE |
Frequent topics
Temáticas
Fulfilled projects
Participation and project management
IP
NOT IP
Groups, Networks
Teaching activity
Directed Thesis
19
Headquarters
Universitat Autònoma de Barcelona
Fundació Puigvert
Hospital Universitario de Son Dureta
Universitat de Barcelona
Subject / Course
Institutional collaboration last 5 years
