Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Autor: Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Background Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition ha

Externí odkaz: https://doaj.org/article/bf838d3290344e92b33a55b04e45428f

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

Autor: Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard

Publikováno v: Stem Cell Research, Vol 38, Iss , Pp - (2019)

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-

Externí odkaz: https://doaj.org/article/6bcc985f9e1040cd893521594429bcff

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

Autor: Magdalena Ugarte, Elena Martín-Hernández, Belén Pérez, Amaya Belanger-Quintana, Lourdes R. Desviat, Inmaculada García-Jiménez, Isidro Vitoria, Ricardo Ramos-Ruiz, Rosa Navarrete, Celia Pérez-Cerdá, Pilar Quijada-Fraile, María A. Bueno, Laura Toledo, María Teresa García Silva, Sinziana Stanescu, Ana I. Vega, Begoña Merinero, Pilar Rodríguez-Pombo, Irene Bravo-Alonso, Pedro Ruiz-Sala, Miguel Martín, María L. Couce

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 8, Iss 11, p 1811 (2019)
Journal of Clinical Medicine; Volume 8; Issue 11; Pages: 1811
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of clinical medicine
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f0e2dd464d6604cfbbe328065583bb
https://pubmed.ncbi.nlm.nih.gov/31683770

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

Autor: Begoña Merinero, Pilar Rodríguez-Pombo, Alfonso Oyarzabal, Angeles Garcia-Cazorla, Rafael Artuch, Magdalena Ugarte, Irene Bravo-Alonso, María Sánchez-Aragó, M.T. Rejas

Publikováno v: Data in Brief, Vol 7, Iss, Pp 755-759 (2016)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
instname
Data in Brief
Biblos-e Archivo. Repositorio Institucional de la UAM

This data article contains complementary figures to the research article >Mitochondrial response to the BCKDK-deficiency: some clues to understand the positive dietary response in this form of autism> [. 1]. Herein we present data relative to the eff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6015aeba6dbe726ad0e5bf3d86fb7733

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

Autor: Irene Bravo-Alonso, Johan L.K. Van Hove, Michael A. Swanson, Belén Pérez, Ana Morais, Angels García-Cazorla, David Abia, Rosa Navarrete, Pilar Rodríguez-Pombo, María L. Couce, Magdalena Ugarte, María Antonia Ramos, Celia Pérez-Cerdá, Almudena Perona, Rosario Domingo, Laura Arribas-Carreira

Publikováno v: Human mutation. 38(6)

The rapid analysis of genomic data is providing effective mutational confirmation in patients with clinical and biochemical hallmarks of a specific disease. This is the case for nonketotic hyperglycinemia (NKH), a Mendelian disorder causing seizures

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742653b9969f93480445d624a74bc7c7
https://pubmed.ncbi.nlm.nih.gov/28244183