Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/98119
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Campo DC | Valor | Lengua/Idioma |
---|---|---|
dc.contributor.author | Ramos, Mónica | - |
dc.contributor.author | Menao, Sebastián | - |
dc.contributor.author | Arnedo, María | - |
dc.contributor.author | Puisac, Beatriz | - |
dc.contributor.author | Gil-Rodríguez, María Concepción | - |
dc.contributor.author | Hernández-Marcos, María | - |
dc.contributor.author | Pierre, Germaine | - |
dc.contributor.author | Ramaswami, Uma | - |
dc.contributor.author | Baquero-Montoya, Carolina | - |
dc.contributor.author | Bueno, Gloria | - |
dc.contributor.author | Casale, César | - |
dc.contributor.author | Hegardt, Fausto G. | - |
dc.contributor.author | Gómez-Puertas, Paulino | - |
dc.contributor.author | Pié, Juan | - |
dc.date.accessioned | 2014-06-10T11:32:51Z | - |
dc.date.available | 2014-06-10T11:32:51Z | - |
dc.date.issued | 2013 | - |
dc.identifier | doi: 10.1016/j.ejmg.2013.05.008 | - |
dc.identifier | issn: 1769-7212 | - |
dc.identifier.citation | European Journal of Medical Genetics 56: 411- 415 (2013) | - |
dc.identifier.uri | http://hdl.handle.net/10261/98119 | - |
dc.description.abstract | Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly, hypoglycaemia, dicarboxylic aciduria, and in severe cases, coma. This deficiency may have been under-diagnosed owing to the absence of specific clinical and biochemical markers, limitations in liver biopsy and the lack of an effective method of expression and enzyme assay for verifying the mutations found. To date, eight patients have been reported with nine allelic variants of the HMGCS2 gene. We present a new method of enzyme expression and a modification of the activity assay that allows, for first time, the functional study of missense mutations found in patients with this deficiency. Four of the missense mutations (p.V54M, p.R188H, p.G212R and p.G388R) did not produce proteins that could have been detected in soluble form by western blot; three produced a total loss of activity (p.Y167C, p.M307T and p.R500H) and one, variant p.F174L, gave an enzyme with a catalytic efficiency of 11.5%. This indicates that the deficiency may occur with partial loss of activity of enzyme. In addition, we describe a new patient with this deficiency, in which we detected the missense allelic variant, c.1162G>A (p.G388R) and the nonsense variant c.1270C>T (p.R424X). © 2013 Elsevier Masson SAS. | - |
dc.description.sponsorship | Diputación General de Aragón (DGA) (Grupo Consolidado B20); European Social Fund (“Construyendo Europa desde Aragón”); Spanish Ministry of Education and Science (SAF2004-06843-C03); Spanish Ministerio de Ciencia and Ministerio de Economía y Competitividad (SAF2007-61926, IPT2011-0964-900000, SAF2011-13156-E); Spanish Instituto de Salud Carlos III (CIBER Fisiopatología de la Obesidad y Nutrición); European Commission (FP7 HEALTH-F3-2009-223431, EU project “Divinocell”, FP7 HEALTH-2011-278603; EU project “Dorian”); European Social Fund | - |
dc.publisher | Elsevier | - |
dc.rights | closedAccess | - |
dc.subject | Ketone bodies | - |
dc.subject | Deficiency | - |
dc.subject | Mutations | - |
dc.subject | Mitochondrial HMG-CoA synthase | - |
dc.title | New case of mitochondrial HMG-CoA synthase deficiency: Functional analysis of eight mutations | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1016/j.ejmg.2013.05.008 | - |
dc.date.updated | 2014-06-10T11:32:51Z | - |
dc.description.version | Peer Reviewed | - |
dc.language.rfc3066 | eng | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | artículo | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
Aparece en las colecciones: | (CBM) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
SCOPUSTM
Citations
21
checked on 20-abr-2024
WEB OF SCIENCETM
Citations
17
checked on 25-feb-2024
Page view(s)
359
checked on 23-abr-2024
Download(s)
127
checked on 23-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.