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http://hdl.handle.net/10261/195344
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dc.contributor.author | Bravo-Alonso, Irene | - |
dc.contributor.author | Navarrete, Rosa | - |
dc.contributor.author | Vega, Ana Isabel | - |
dc.contributor.author | Ruíz-Sala, Pedro | - |
dc.contributor.author | García Silva, María Teresa | - |
dc.contributor.author | Martín-Hernández, Elena | - |
dc.contributor.author | Quijada-Fraile, Pilar | - |
dc.contributor.author | Belanger-Quintana, Amaya | - |
dc.contributor.author | Stanescu, Sinziana | - |
dc.contributor.author | Bueno, María | - |
dc.contributor.author | Vitoria, Isidro | - |
dc.contributor.author | Toledo, Laura | - |
dc.contributor.author | Couce, María Luz | - |
dc.contributor.author | García-Jiménez, Inmaculada | - |
dc.contributor.author | Ramos-Ruiz, Ricardo | - |
dc.contributor.author | Martín, Miguel Ángel | - |
dc.contributor.author | Desviat, Lourdes R. | - |
dc.contributor.author | Ugarte, Magdalena | - |
dc.contributor.author | Pérez-Cerdá, Celia | - |
dc.contributor.author | Merinero, Begoña | - |
dc.contributor.author | Pérez, Belén | - |
dc.contributor.author | Rodríguez-Pombo, Pilar | - |
dc.date.accessioned | 2019-11-22T14:49:40Z | - |
dc.date.available | 2019-11-22T14:49:40Z | - |
dc.date.issued | 2019-11-01 | - |
dc.identifier.citation | Journal of Clinical Medicine 8(11): 1811 (2019) | - |
dc.identifier.uri | http://hdl.handle.net/10261/195344 | - |
dc.description.abstract | 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 diagnosis rate for this highly heterogeneous allelic condition remains low. The present work reports our group’s experience of using a clinical/biochemical analysis system in conjunction with genetic findings that facilitates the taking of timely clinical decisions with minimum need for invasive procedures. The system’s workflow combines different metabolomics datasets and phenotypic information with the results of clinical exome sequencing and/or RNA analysis. The system’s use detected genetic variants in 64% of a cohort of 39 CLA-patients; these variants, 14 of which were novel, were found in 19 different nuclear and two mitochondrial genes. For patients with variants of unknown significance, the genetic analysis was combined with functional genetic and/or bioenergetics analyses in an attempt to detect pathogenicity. Our results warranted subsequent testing of antisense therapy to rescue the abnormal splicing in cultures of fibroblasts from a patient with a defective <i>GFM1</i> gene. The discussed system facilitates the diagnosis of CLA by avoiding the need to use invasive techniques and increase our knowledge of the causes of this condition. | - |
dc.description.sponsorship | This research was funded in part by Fundación Isabel Gemio, Fundación La Caixa (LCF/PR/PR16/11110018); Spanish Ministerio de Economía y Competitividad and Fondo Europeo de Desarrollo Regional (FEDER) PI16/00573 and Regional Government of Madrid (CAM, B2017/BMD3721). | - |
dc.publisher | Multidisciplinary Digital Publishing Institute | - |
dc.relation | B2017/BMD3721 | - |
dc.relation.isversionof | Publisher's version | - |
dc.rights | openAccess | - |
dc.subject | Congenital lactic acidosis | - |
dc.subject | Mitochondrial dysfunction | - |
dc.subject | Metabolomics datasets | - |
dc.subject | Clinical-exome sequencing | - |
dc.subject | RNA analysis | - |
dc.subject | Antisense therapy for mitochondrial disorders | - |
dc.subject | Healthcare | - |
dc.subject | Mitochondrial morphology | - |
dc.title | Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment | - |
dc.type | artículo | - |
dc.identifier.doi | 10.3390/jcm8111811 | - |
dc.description.peerreviewed | Peer reviewed | - |
dc.relation.publisherversion | https://doi.org/10.3390/jcm8111811 | - |
dc.identifier.e-issn | 2077-0383 | - |
dc.date.updated | 2019-11-22T14:49:40Z | - |
dc.rights.license | http://creativecommons.org/licenses/by/4.0/ | - |
dc.contributor.funder | Fundación Isabel Gemio | - |
dc.contributor.funder | Fundación la Caixa | - |
dc.contributor.funder | European Commission | - |
dc.contributor.funder | Comunidad de Madrid | - |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | - |
dc.relation.csic | Sí | - |
dc.identifier.funder | http://dx.doi.org/10.13039/100012818 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000780 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100003329 | es_ES |
dc.identifier.pmid | 31683770 | - |
dc.subject.uri | http://metadata.un.org/sdg/3 | es_ES |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
dc.subject.sdg | Ensure healthy lives and promote well-being for all at all ages | es_ES |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | artículo | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
Aparece en las colecciones: | (CBM) Artículos |
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Fichero | Descripción | Tamaño | Formato | |
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genes_lactic_acidosis_personalized_treatment.pdf | 2,08 MB | Adobe PDF | Visualizar/Abrir |
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