V. Nunes

发表

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

X. Estivill, G. Borsani, A. Ballabio, 2001, Human molecular genetics.

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

M. Palacín, R. Estévez, V. Nunes, 2018, European journal of medical genetics.

Mitochondrial Effects of Antiretroviral Therapies in Asymptomatic Patients

Ò. Miró, J. Gatell, B. Rodríguez-Santiago, 2004, Antiviral therapy.

Mitochondrial respiratory chain in brain homogenates: activities in different brain areas in patients with Alzheimer’s disease

Ò. Miró, B. Rodríguez-Santiago, V. Nunes, 2005, Aging clinical and experimental research.

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

V. Nunes, M. Heredia, R. Clèries, 2013, Genetics in Medicine.

Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy

J. Ruberte, M. Chillón, R. Estévez, 2020, Neurotherapeutics.

Delta F508 gene deletion in cystic fibrosis in southern Europe [letter]

X. Estivill, P. Pignatti, P. Gasparini, 1989 .

ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

X. Estivill, P. Pignatti, R. Williamson, 1989, The Lancet.

Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging.

X. Estivill, A. Barrientos, V. Nunes, 1997, Brain research. Molecular brain research.

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

X. Estivill, T. Casals, J. Lavinha, 1997, Human mutation.

CALL FOR PAPERS Renal Solute Cotransporters and Exchangers Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b AT (Slc7a9) in mice

G. Capasso, A. Cantone, F. Artunc, 2014 .

Renal Solute Cotransporters and Exchangers Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b 0 , AT ( Slc 7 a 9 ) in mice

G. Capasso, A. Cantone, F. Artunc, 2013 .

Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.

G. Capasso, A. Cantone, F. Artunc, 2013, American journal of physiology. Renal physiology.

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

M. Palacín, J. Chillarón, A. Zorzano, 2003, Human molecular genetics.

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

X. Estivill, E. Tolosa, V. Volpini, 1996, American journal of human genetics.

The genetics of heteromeric amino acid transporters.

J. Fort, M. Palacín, J. Chillarón, 2005, Physiology.

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.

Margreet C. Ridder, B. Fakler, G. Scheper, 2011, American journal of human genetics.

Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes.

X. Estivill, M. Palacín, J. Chillarón, 1993, The Journal of biological chemistry.

Respiratory chain activity and mitochondrial DNA content of nonpurified and purified pancreatic islet cells.

R. Gomis, I. Conget, A. Barrientos, 1997, Metabolism: clinical and experimental.

Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA.

X. Estivill, F. Galibert, M. Vidaud, 1988, American journal of human genetics.

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.

M. Palacín, L. Feliubadaló, V. Nunes, 2007, American journal of physiology. Renal physiology.

Analysis of 14 cystic fibrosis mutations in five South European populations

X. Estivill, P. Pignatti, P. Gasparini, 1991, Human Genetics.

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

X. Estivill, T. Casals, S. Larriba, 1997, Human Genetics.

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION

X. Estivill, T. Casals, V. Nunes, 1996, Prenatal diagnosis.

Analysis of the CFTR gene in the Spanish population: SSCP‐screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812‐1 G→A, and 3667de14)

X. Estivill, T. Casals, M. Chillón, 1994, Human mutation.

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

X. Estivill, T. Casals, M. Chillón, 1992, Human mutation.

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.

G. Lukács, G. Scheper, M. Palacín, 2008, Human molecular genetics.

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

X. Estivill, P. Gasparini, M. Nadal, 1996, Pediatric Nephrology.

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

X. Estivill, M. Gallucci, P. Gasparini, 1997, American journal of human genetics.

Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.

V. Nunes, E. Doménech, M. Gómez-Zaera, 2006, Pediatric endocrinology reviews : PER.

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

X. Estivill, J. Zieleński, L. Tsui, 2004, Human Genetics.

Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy.

Ò. Miró, J. Miro, J. Gatell, 2003, AIDS research and human retroviruses.

Mitochondrial Dna Depletion and Respiratory Chain Enzyme Deficiencies are Present in Peripheral Blood Mononuclear Cells of HIV-Infected Patients with Haart-Related Lipodystrophy

Ò. Miró, J. Gatell, B. Rodríguez-Santiago, 2002, Antiviral therapy.

Is mitochondrial DNA depletion involved in Alzheimer's disease?

B. Rodríguez-Santiago, V. Nunes, J. Casademont, 2001, European Journal of Human Genetics.

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

M. Palacín, L. Zelante, V. Nunes, 2005, Journal of Medical Genetics.

The amino acid transporter asc-1 is not involved in cystinuria.

G. Borsani, M. Manzoni, M. Palacín, 2004, Kidney international.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

M. Gallucci, P. Gasparini, G. Rizzoni, 2002, Journal of the American Society of Nephrology : JASN.

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

X. Estivill, M. Gallucci, P. Gasparini, 1996, Human Genetics.

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.

G. Lukács, X. Gasull, Gerard Callejo, 2013, Human molecular genetics.

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.

S. Ferroni, S. Neuhauss, R. Estévez, 2014, Human molecular genetics.

WFS1 mutations in Spanish patients with diabetes mellitus and deafness

V. Nunes, E. Doménech, M. Gómez-Zaera, 2002, European Journal of Human Genetics.

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

X. Estivill, T. Meitinger, T. Strom, 2001, Molecular genetics and metabolism.

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

X. Estivill, T. Casals, M. Chillón, 1994, Human Genetics.

Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppressed by Lat2 Inactivation

J. Bernal, M. Palacín, M. Obregon, 2014, PloS one.

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.

M. Palacín, A. Zorzano, A. Ormazabal, 2018, Journal of the American Society of Nephrology : JASN.

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

X. Gasull, R. Estévez, T. Jentsch, 2012, Neuron.

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

X. Estivill, T. Casals, L. Bassas, 1995, Human Genetics.

Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles

X. Estivill, T. Casals, V. Nunes, 1991, The Lancet.

Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations

X. Estivill, G. Cutting, A. Gaona, 1991, Prenatal diagnosis.

Δ F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families

X. Estivill, P. Gasparini, B. Dallapiccola, 1990 .

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.

X. Estivill, R. Williamson, T. Casals, 1989, American journal of human genetics.

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans

W. Berger, S. Bhattacharya, A. Moore, 2019, Front. Physiol..

Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy.

Ò. Miró, V. Nunes, E. Pedrol, 2000, AIDS.

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.

F. Ciruela, G. Scheper, I. Ferrer, 2011, Human molecular genetics.

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations

X. Estivill, P. Gasparini, B. Dallapiccola, 1989, Human Genetics.

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene

H. Kruyer, V. Nunes, Carolina Gómez, 2004, Prenatal diagnosis.

Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families

V. Nunes, E. Doménech, M. Gómez-Zaera, 2004, Clinical genetics.

The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders

J. Joven, E. Vilella, L. Martorell, 2003, Psychiatric genetics.

Oral Sessions

Capasso, A. Cantone, F. Artunc, 2014 .

PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation.

X. Estivill, M. Chillón, V. Nunes, 1990, Nucleic acids research.

Pathophysiology and treatment of cystinuria

D. Goldfarb, M. Palacín, J. Chillarón, 2010, Nature Reviews Nephrology.

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

X. Estivill, M. Gallucci, P. Gasparini, 1994, Nature Genetics.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

X. Estivill, D. Torrents, G. Borsani, 1999, Nature Genetics.

Detection of two novel large deletions in SLC3A1 by semi‐quantitative fluorescent multiplex PCR

P. Gasparini, M. Palacín, J. Jaeken, 2000, Human mutation.

Cystinuria type I: identification of eight new mutations in SLC3A1.

M. Gallucci, P. Gasparini, G. Rizzoni, 2001, Kidney international.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Joaquín Dopazo, Rosa Navarrete, Anna López-Sala, 2014, Human mutation.

Two novel mutations in the BCKDK gene ( branched-chain keto-acid dehydrogenase kinase ) are responsible of a neurobehavioral deficit in two pediatric unrelated patients

Joaquín Dopazo, Joana, Rafael Artuch, 2014 .

Thiol Modification of Cysteine 327 in the Eighth Transmembrane Domain of the Light Subunit xCT of the Heteromeric Cystine/Glutamate Antiporter Suggests Close Proximity to the Substrate Binding Site/Permeation Pathway*

M. Palacín, J. Chillarón, A. Zorzano, 2004, Journal of Biological Chemistry.

Testicular CFTR splice variants in patients with congenital absence of the vas deferens.

X. Estivill, T. Casals, L. Bassas, 1998, Human molecular genetics.

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

X. Estivill, V. Volpini, I. Ferrer, 1996, The Journal of clinical investigation.

Absence of mitochondrial dysfunction in polymyalgia rheumatica. Evidence based on a simultaneous molecular and biochemical approach.

Ò. Miró, A. Barrientos, V. Nunes, 1999, Scandinavian journal of rheumatology.

The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunction.

X. Estivill, J. Grau, A. Barrientos, 1996, Brain : a journal of neurology.

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

X. Estivill, P. Gasparini, B. Dallapiccola, 1991, Genomics.

The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence

X. Estivill, P. Moral, A. Barrientos, 1995, Human Genetics.

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

X. Estivill, J. Kere, J. Bertranpetit, 1994, Nature Genetics.

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

D. Torrents, O. Simell, K. Huoponen, 1999, Nature Genetics.

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

X. Estivill, P. Gasparini, M. Nadal, 1995, Human Genetics.

Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

P. Gasparini, M. Dierssen, M. Mezzavilla, 2018, eLife.

Title 1 Mutations in L-type amino acid transporter-2 support SLC 7 A 8 as a novel gene involved 2 in Age-Related Hearing Loss

P. Gasparini, M. Dierssen, M. Mezzavilla, 2018 .

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].

X. Estivill, J. Zieleński, I. Aznarez, 2000, Medycyna wieku rozwojowego.

Decreased fibrinolytic activity in Behçet's syndrome.

V. Nunes, J. Sousa Pinto, 1983, Acta medica portuguesa.

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

X. Estivill, T. Dörk, K. Will, 1995, American journal of human genetics.

Digenic Inheritance in Cystinuria Mouse Model

E. Salido, M. Palacín, V. Nunes, 2015, PloS one.

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

X. Estivill, J. Bertranpetit, T. Casals, 1993, Human molecular genetics.

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

X. Estivill, P. Gasparini, M. Palacín, 1999, Genomics.

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

L. Gómez, B. Rodríguez-Santiago, L. Pérez-Jurado, 2009, European Journal of Human Genetics.

Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus

X. Estivill, J. Kere, R. Williamson, 1989, Human Genetics.

fibrosis . to the clinical course of cystic DNA marker , MP 6 d-9 , is related The genotype of a new linked and

X. Estivill, P. Pignatti, R. Williamson, 2004 .

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.

X. Estivill, T. Casals, Ó. Asensio, 1993, Human molecular genetics.

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.

X. Estivill, C. Lázaro, T. Casals, 1991, Journal of medical genetics.

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

X. Estivill, T. Casals, V. Nunes, 1991, Genomics.

Genetic analysis of cystic fibrosis.

X. Estivill, T. Casals, V. Nunes, 1991, Advances in experimental medicine and biology.

The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.

X. Estivill, P. Pignatti, R. Williamson, 1990, Journal of medical genetics.

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

R. Estévez, V. Nunes, A. Alia, 2019, Orphanet Journal of Rare Diseases.

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

X. Estivill, T. Dörk, B. Tümmler, 1993, Human molecular genetics.

Caracterització molecular de la FQ a la població espanyola Cystic fibrosis in the basque country: high frequency of mutation F508 in patients of basque origin

X. Estivill, C. Lázaro, A. Gaona, 2005 .

ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis

X. Estivill, T. Casals, L. Sumoy, 2001, European Journal of Human Genetics.

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

X. Estivill, A. Gaona, T. Casals, 1993, Human Genetics.

The molecular basis of cystinuria: the role of the rBAT gene

X. Estivill, D. Torrents, P. Gasparini, 1996, Amino Acids.

Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21.

X. Estivill, A. Bosch, D. Patterson, 1993, Genomics.

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

X. Estivill, J. Bertranpetit, L. Kalaydjieva, 1994, Nature genetics.

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients

B. Rodríguez-Santiago, V. Nunes, 2005, Neurobiology of Disease.

Non‐viral vector‐mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells

X. Estivill, T. Casals, D. de Semir, 2002, The journal of gene medicine.

Choroid plexus LAT2 and SNAT3 as partners in CSF amino acid homeostasis maintenance

M. Palacín, V. Nunes, F. Verrey, 2020, Fluids and Barriers of the CNS.

Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.

V. Álvarez, E. Coto, V. Nunes, 2006, International journal of cardiology.

Gene symbol: SLC3A1. Disease: cystinuria.

M. Palacín, L. Zelante, V. Nunes, 2005, Human Genetics.

Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1

M. Palacín, Y. Kanai, S. Nakagomi, 2016, Proceedings of the National Academy of Sciences.

Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.

X. Gasull, Gerard Callejo, R. Estévez, 2017, Human molecular genetics.

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations

G. Capasso, P. Gasparini, S. Ulivi, 2008, Amino Acids.

Mutation analysis in cystic fibrosis (II)

X. Estivill, P. Pignatti, P. Gasparini, 1990 .

Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process.

X. Estivill, J. Fernandez-Checa, A. Barrientos, 1997, Biochemical and molecular medicine.

Suitability of oligonucleotide‐mediated cystic fibrosis gene repair in airway epithelial cells

X. Estivill, T. Casals, M. Nadal, 2003, The journal of gene medicine.

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

X. Estivill, T. Casals, L. Pena, 1995, Human Genetics.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

M Claustres, W Lissens, X. Estivill, 1995, The New England journal of medicine.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Arie, X. Estivill, atherine, 1995, The New England journal of medicine.

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

M. Palacín, L. Zelante, V. Nunes, 2005, Journal of Medical Genetics.

SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.

X. Estivill, M. Chillón, V. Nunes, 1991, Nucleic acids research.

High conservation of sequences involved in cystic fibrosis mutations in five mammalian species.

X. Estivill, P. Gasparini, V. Nunes, 1991, Genomics.

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.

X. Estivill, T. Casals, M. Chillón, 1993, Human molecular genetics.

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

X. Estivill, M. Chillón, V. Nunes, 1992, Human Genetics.

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

X. Estivill, G. Antiñolo, A. Gaona, 1992 .

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

J. Dopazo, B. Merinero, M. Ugarte, 2014, Human mutation.

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION

X. Estivill, T. Casals, V. Nunes, 1996, Prenatal Diagnosis.

Quantitative Assessment of Chimeraplast Stability in Biological Fluids by Polyacrylamide Gel Electrophoresis and Laser-Assisted Fluorescence Analysis

X. Estivill, T. Casals, D. de Semir, 2002, Pharmaceutical Research.