Cargando…
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
BACKGROUND: The role of epigenetics in inborn errors of metabolism (IEMs) is poorly investigated. Epigenetic changes can contribute to clinical heterogeneity of affected patients but could also be underestimated determining factors in the occurrence of IEMs. An epigenetic cause of IEMs has been rece...
Autores principales: | Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254308/ https://www.ncbi.nlm.nih.gov/pubmed/34215320 http://dx.doi.org/10.1186/s13148-021-01117-2 |
Ejemplares similares
-
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
por: Guéant, Jean-Louis, et al.
Publicado: (2018) -
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
por: Guéant, Jean-Louis, et al.
Publicado: (2018) -
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12)
por: Oussalah, Abderrahim, et al.
Publicado: (2022) -
Epimutation of MMACHC compound to a genetic mutation in cblC cases
por: Zhang, Xiaoman, et al.
Publicado: (2021) -
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
por: Pollini, Luca, et al.
Publicado: (2020)