Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Belen Perez-Duenas"'
Autor:
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primari
Externí odkaz:
https://doaj.org/article/397740004a1b45fa965e4a7adab07532
Autor:
Ana Cazurro-Gutiérrez, Helena Gimeno-Agud, Mriam Blay-Benach, Amalia Peñuela-Suarez, Diego Del Castillo-Berges, Àlex Bayés, Belén Pérez-Dueñas
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S82- (2023)
Externí odkaz:
https://doaj.org/article/a5580e5cc1834ae59409d422906f991c
Publikováno v:
Seminars in pediatric neurology. 23(4)
B vitamins act as cofactors for strategic metabolic processes. The SLC19 gene family of solute carriers has a significant structural similarity, transporting substrates with different structure and ionic charge. Three proteins of this family are expr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae5f5e0f1179c48f88ea382620c6745
https://pubmed.ncbi.nlm.nih.gov/28284395
https://pubmed.ncbi.nlm.nih.gov/28284395
Autor:
Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation o
Externí odkaz:
https://doaj.org/article/1dfc4ef2a8f84380aa58662d4d43c82c
Autor:
Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez, Ángel Sánchez‐Montáñez, Alfons Macaya, María J. Sobrido, Marta Martinez‐Vicente, Belén Pérez‐Dueñas, Carmen Espinós
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1436-1442 (2020)
Abstact FBXO7 is implicated in the ubiquitin–proteasome system and parkin‐mediated mitophagy. FBXO7defects cause a levodopa‐responsive parkinsonian‐pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with
Externí odkaz:
https://doaj.org/article/5962ad217fd2467d95a29552c3e8210a
Autor:
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated c
Externí odkaz:
https://doaj.org/article/65e1319d27ad461db2e041f1cb14beef
Autor:
Candela Machuca, Marta Correa-Vela, Deyanira García-Navas, Alejandra Darling, Irene Villalón-García, José Antonio Sánchez-Alcázar, Belén Pérez-Dueñas, Slaven Erceg, Carmen Espinós
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102338- (2021)
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutat
Externí odkaz:
https://doaj.org/article/1a353abcb7a84e1589a0d39f34e813f1
Autor:
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Abstract Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumet
Externí odkaz:
https://doaj.org/article/4c9c403fb4bb417a95c034a61cf6a37c
Autor:
Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2505 (2021)
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that
Externí odkaz:
https://doaj.org/article/fc6a808cdc5c49769f2b6e655f50897f
Autor:
Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)
BACKGROUND:We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for mitochondrial diseases affecting ch
Externí odkaz:
https://doaj.org/article/30b50934a31046c69010ef0f87d1343d