Afficher la notice abrégée

dc.contributor.authorSantos Ocaña, Carlos
dc.contributor.authorAlcázar Fabra, María
dc.date.accessioned2021-11-03T12:57:02Z
dc.date.available2021-11-03T12:57:02Z
dc.date.issued2021-09-22
dc.identifier.citationSantos-Ocaña, C... [et al.]. Cellular Models for Primary CoQ Deficiency Pathogenesis Study. Int. J. Mol. Sci. 2021, 22, 10211. [https://doi.org/10.3390/ijms221910211]es_ES
dc.identifier.urihttp://hdl.handle.net/10481/71264
dc.descriptionThis work was supported by Junta de Andalucia grants P18-RT-4572, UPO-126247, UPO1265673 and BIO-177, the Instituto de Salud Carlos III FIS grant FIS PI20/00541, the FEDER Funding Pro-gram from the European Union, and CIBERER (U729)-ISCIII, and Spanish Ministry of Science, Innovation and Universities grant RED2018-102576-T.es_ES
dc.description.abstractPrimary coenzyme Q10 (CoQ) deficiency includes a heterogeneous group of mitochondrial diseases characterized by low mitochondrial levels of CoQ due to decreased endogenous biosynthesis rate. These diseases respond to CoQ treatment mainly at the early stages of the disease. The advances in the next generation sequencing (NGS) as whole-exome sequencing (WES) and whole-genome sequencing (WGS) have increased the discoveries of mutations in either gene already described to participate in CoQ biosynthesis or new genes also involved in this pathway. However, these technologies usually provide many mutations in genes whose pathogenic effect must be validated. To functionally validate the impact of gene variations in the disease’s onset and progression, different cell models are commonly used. We review here the use of yeast strains for functional complementation of human genes, dermal skin fibroblasts from patients as an excellent tool to demonstrate the biochemical and genetic mechanisms of these diseases and the development of human-induced pluripotent stem cells (hiPSCs) and iPSC-derived organoids for the study of the pathogenesis and treatment approaches.es_ES
dc.description.sponsorshipJunta de Andalucia P18-RT-4572 UPO-126247 UPO1265673 BIO-177es_ES
dc.description.sponsorshipInstituto de Salud Carlos III European Commission FIS PI20/00541es_ES
dc.description.sponsorshipFEDER Funding Pro-gram from the European Union Instituto de Salud Carlos III U729es_ES
dc.description.sponsorshipSpanish Ministry of Science, Innovation and Universities RED2018-102576-Tes_ES
dc.language.isoenges_ES
dc.publisherMDPIes_ES
dc.rightsAtribución 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.subjectCoenzyme Qes_ES
dc.subjectCoenzyme Q deficiencyes_ES
dc.subjectMitochondrial diseaseses_ES
dc.subjectCell modelses_ES
dc.subjectYeast es_ES
dc.subjectiPSCes_ES
dc.subjectHuman fibroblastses_ES
dc.titleCellular Models for Primary CoQ Deficiency Pathogenesis Studyes_ES
dc.typejournal articlees_ES
dc.rights.accessRightsopen accesses_ES
dc.identifier.doi10.3390/ijms221910211
dc.type.hasVersionVoRes_ES


Fichier(s) constituant ce document

[PDF]

Ce document figure dans la(les) collection(s) suivante(s)

Afficher la notice abrégée

Atribución 3.0 España
Excepté là où spécifié autrement, la license de ce document est décrite en tant que Atribución 3.0 España