Search Results - "Ferrer, Xenia"

P1496: TRANSFERRIN NON‐CODING VARIANTS CAUSE MRNA DESTABILISATION IN CONGENITAL HYPOTRANSFERRINEMIA by Ferrer, Xenia, Romero‐Cortadellas, Lídia, Diaz‐de‐Heredia, Cristina, Moser, Katja, Budde, Ilona Kleine, Sanchez, Mayka

Get full text

Differential diagnosis of lipoic acid synthesis defects by Tort, Frederic, Ferrer-Cortes, Xènia, Ribes, Antonia

“…Lipoic acid (LA) is an essential cofactor required for the activity of five multienzymatic complexes that play a central role in the mitochondrial energy…”
Get full text

Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics by Romero‐Cortadellas, Lídia, Ferrer‐Cortès, Xènia, Calvo‐López, Laura, Olivella, Mireia, Barqué, Anna, Diaz‐de‐Heredia, Cristina, Moser, Katja, Kleine Budde, Ilona, Sanchez, Mayka

Get full text

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria by Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y, Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

Get full text

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology by Tort, Frederic, Ugarteburu, Olatz, Texidó, Laura, Gea‐Sorlí, Sabrina, García‐Villoria, Judit, Ferrer‐Cortès, Xènia, Arias, Ángela, Matalonga, Leslie, Gort, Laura, Ferrer, Isidre, Guitart‐Mampel, Mariona, Garrabou, Glòria, Vaz, Frederick M, Pristoupilova, Ana, Rodríguez, María Isabel Esteban, Beltran, Sergi, Cardellach, Francesc, Wanders, Ronald JA, Fillat, Cristina, García‐Silva, María Teresa, Ribes, Antonia

“…3‐Methylglutaconic aciduria (3‐MGA‐uria) syndromes comprise a heterogeneous group of diseases associated with mitochondrial membrane defects. Whole‐exome…”
Get full text

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases by Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Luis, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

“…Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the…”
Get full text

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution by Tort, Frederic, Barredo, Estibaliz, Parthasarathy, Ranjani, Ugarteburu, Olatz, Ferrer-Cortès, Xenia, García-Villoria, Judit, Gort, Laura, González-Quintana, Adrián, Martín, Miguel A., Fernández-Vizarra, Erika, Zeviani, Massimo, Ribes, Antonia

“…Isolated complex I (CI) deficiency is the most common cause of oxidative phosphorylation (OXPHOS) dysfunction. Whole-exome sequencing identified biallelic…”
Get full text

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation by Romero-Cortadellas, Lídia, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Zalba-Jadraque, Laura, Fuster, José Luis, Bermúdez-Cortés, Mar, Galera-Miñarro, Ana María, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

“…Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating…”
Get full text

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III by Hernández, Gonzalo, Romero-Cortadellas, Lídia, Ferrer-Cortès, Xènia, Venturi, Veronica, Dessy-Rodriguez, Mercedes, Olivella, Mireia, Husami, Ammar, De Soto, Concepción Pérez, Morales-Camacho, Rosario M, Villegas, Ana, González-Fernández, Fernando-Ataulfo, Morado, Marta, Kalfa, Theodosia A, Quintana-Bustamante, Oscar, Pérez-Montero, Santiago, Tornador, Cristian, Segovia, Jose-Carlos, Sánchez, Mayka

Get full text

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons by Matalonga, Leslie, Arias, Ángela, Tort, Frederic, Ferrer-Cortés, Xènia, Garcia-Villoria, Judit, Coll, Maria Josep, Gort, Laura, Ribes, Antonia

“…Aminoglycoside antibiotics, such as gentamicin, may induce premature termination codon (PTC) readthrough and elude the nonsense-mediated mRNA decay mechanism…”
Get full text

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II by Musri, Melina Mara, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María Del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

“…Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective…”
Get full text

New Mutations in HFE2 and TFR2 Genes Causing Non HFE -Related Hereditary Hemochromatosis by Hernández, Gonzalo, Ferrer-Cortès, Xenia, Venturi, Veronica, Musri, Melina, Pilquil, Martin Floor, Torres, Pau Marc Muñoz, Rodríguez, Ines Hernandez, Mínguez, Maria Àngels Ruiz, Kelleher, Nicholas J, Pelucchi, Sara, Piperno, Alberto, Alberca, Esther Plensa, Ricós, Georgina Gener, Giró, Eloi Cañamero, Pérez-Montero, Santiago, Tornador, Cristian, Villà-Freixa, Jordi, Sánchez, Mayka

“…Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart,…”
Get full text

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease by Ferrer-Cortès, Xènia, Font, Aida, Bujan, Núria, Navarro-Sastre, Aleix, Matalonga, Leslie, Arranz, José Antonio, Riudor, Encarnació, del Toro, Mireia, Garcia-Cazorla, Angels, Campistol, Jaume, Briones, Paz, Ribes, Antonia, Tort, Frederic

“…Cofactor disorders of mitochondrial energy metabolism are a heterogeneous group of diseases with a wide variety of clinical symptoms, particular metabolic…”
Get full text

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes by Tort, Frederic, Ferrer-Cortès, Xènia, Thió, Marta, Navarro-Sastre, Aleix, Matalonga, Leslie, Quintana, Ester, Bujan, Núria, Arias, Angela, García-Villoria, Judit, Acquaviva, Cecile, Vianey-Saban, Christine, Artuch, Rafael, García-Cazorla, Àngels, Briones, Paz, Ribes, Antonia

“…Cofactor disorders of mitochondrial energy metabolism are a heterogeneous group of diseases with a wide variety of clinical symptoms, particular metabolic…”
Get full text

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria by Tort, Frederic, García-Silva, María Teresa, Ferrer-Cortès, Xènia, Navarro-Sastre, Aleix, Garcia-Villoria, Judith, Coll, Maria Josep, Vidal, Enrique, Jiménez-Almazán, Jorge, Dopazo, Joaquín, Briones, Paz, Elpeleg, Orly, Ribes, Antonia

“…3-Methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of syndromes characterized by an increased excretion of 3-methylglutaconic and…”
Get full text

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis by Ferrer-Cortès, Xènia, Narbona, Juan, Bujan, Núria, Matalonga, Leslie, Del Toro, Mireia, Arranz, José Antonio, Riudor, Encarnació, Garcia-Cazorla, Angels, Jou, Cristina, O'Callaghan, Mar, Pineda, Mercé, Montero, Raquel, Arias, Angela, García-Villoria, Judit, Alston, Charlotte L, Taylor, Robert W, Briones, Paz, Ribes, Antonia, Tort, Frederic

“…Mutations in NFU1 were recently identified in patients with fatal encephalopathy. NFU1 is an iron-sulfur cluster protein necessary for the activity of the…”
Get full text

New Mutations in IHFE2/I and ITFR2/I Genes Causing Non IHFE/I-Related Hereditary Hemochromatosis by Hernández, Gonzalo, Ferrer-Cortès, Xenia, Venturi, Veronica, Musri, Melina, Pilquil, Ma, Torres, Pau Marc Muñoz, Rodríguez, Ines Hernandez, Mínguez, Maria Àngels Ruiz, Kelleher, Nicholas J, Pelucchi, Sara, Piperno, Alberto, Alberca, Esther Plensa, Ricós, Georgina Gener, Giró, Eloi Cañamero, Pérez-Montero, Santiago, Tornador, Cristian, Villà-Freixa, Jordi, Sánchez, Mayka

“…Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart,…”
Get full text

Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component by Romero-Cortadellas, Lídia, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Venturi, Veronica, Olivella, Mireia, Pérez de Soto, Concepción, Morales-Camacho, Rosario M., Villegas, Ana, Gonzalez-Fernandez, F. Ataulfo, Morado, Marta, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

“…▪ An autosomal dominant form of congenital dyserythropoietic anemia type III (CDA III) is caused by a missense mutation in the KIF23 gene whose protein…”
Get full text

New Cases and Mutations in ISEC23B/I Gene Causing Congenital Dyserythropoietic Anemia Type II by Musri, Melina Mara, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

“…Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective…”
Get full text

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases by Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Luis, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

Get full text