Pérez-Cerdá C - Search Results

1

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

Fulgencio-Covián A, Alonso-Barroso E, Guenzel AJ, Rivera-Barahona A, Ugarte M, Pérez B, Barry MA, Pérez-Cerdá C, Richard E, Desviat LR. Fulgencio-Covián A, et al. Among authors: perez cerda c. Transl Res. 2020 Apr;218:43-56. doi: 10.1016/j.trsl.2019.12.004. Epub 2019 Dec 27. Transl Res. 2020. PMID: 31951825

2

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR. Sánchez-Alcudia R, et al. Mol Genet Metab. 2011 Feb;102(2):134-8. doi: 10.1016/j.ymgme.2010.10.013. Epub 2010 Nov 5. Mol Genet Metab. 2011. PMID: 21094621

3

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

Gallego-Villar L, Pérez-Cerdá C, Pérez B, Abia D, Ugarte M, Richard E, Desviat LR. Gallego-Villar L, et al. J Inherit Metab Dis. 2013 Sep;36(5):731-40. doi: 10.1007/s10545-012-9545-3. Epub 2012 Oct 3. J Inherit Metab Dis. 2013. PMID: 23053474

4

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.

Rivera-Barahona A, Fulgencio-Covián A, Pérez-Cerdá C, Ramos R, Barry MA, Ugarte M, Pérez B, Richard E, Desviat LR. Rivera-Barahona A, et al. Sci Rep. 2017 Jul 18;7(1):5727. doi: 10.1038/s41598-017-06420-8. Sci Rep. 2017. PMID: 28720782 Free PMC article.

5

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.

Alonso-Barroso E, Brasil S, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E. Alonso-Barroso E, et al. Stem Cell Res. 2017 Aug;23:173-177. doi: 10.1016/j.scr.2017.07.021. Epub 2017 Jul 22. Stem Cell Res. 2017. PMID: 28925364 Free article.

6

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR. Rivera-Barahona A, et al. Mol Genet Metab. 2018 Nov;125(3):266-275. doi: 10.1016/j.ymgme.2018.09.008. Epub 2018 Sep 26. Mol Genet Metab. 2018. PMID: 30274917

7

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

López-Márquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E. López-Márquez A, et al. Among authors: perez cerda c. Stem Cell Res. 2019 Jul;38:101469. doi: 10.1016/j.scr.2019.101469. Epub 2019 May 22. Stem Cell Res. 2019. PMID: 31132581 Free article.

8

Prenatal diagnosis of propionic acidemia.

Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez-Pombo P, Ugarte M. Pérez-Cerdá C, et al. Prenat Diagn. 2004 Dec 15;24(12):962-4. doi: 10.1002/pd.1057. Prenat Diagn. 2004. PMID: 15614906

9

Functional characterization of PCCA mutations causing propionic acidemia.

Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR. Clavero S, et al. Biochim Biophys Acta. 2002 Nov 20;1588(2):119-25. doi: 10.1016/s0925-4439(02)00155-2. Biochim Biophys Acta. 2002. PMID: 12385775 Free article.

10

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

Rodríguez-Pombo P, Pérez-Cerdá C, Pérez B, Desviat LR, Sánchez-Pulido L, Ugarte M. Rodríguez-Pombo P, et al. Biochim Biophys Acta. 2005 Jun 10;1740(3):489-98. doi: 10.1016/j.bbadis.2004.10.009. Epub 2004 Nov 2. Biochim Biophys Acta. 2005. PMID: 15949719 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

130 results

Search Page