Pérez-Cerdá C - Search Results

1

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Vega AI, et al. J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541725

2

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B. Vega AI, et al. Hum Mutat. 2009 May;30(5):795-803. doi: 10.1002/humu.20960. Hum Mutat. 2009. PMID: 19235233

3

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M. Pérez B, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549364

4

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

Pérez B, Medrano C, Ecay MJ, Ruiz-Sala P, Martínez-Pardo M, Ugarte M, Pérez-Cerdá C. Pérez B, et al. J Inherit Metab Dis. 2013 May;36(3):535-42. doi: 10.1007/s10545-012-9525-7. Epub 2012 Sep 14. J Inherit Metab Dis. 2013. PMID: 22976764

5

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

6

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23. Hum Mutat. 2015. PMID: 26014514 Free article.

7

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.

8

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B. Yuste-Checa P, et al. Hum Mutat. 2017 Feb;38(2):160-168. doi: 10.1002/humu.23138. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27774737

9

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium. de Diego V, et al. J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. J Inherit Metab Dis. 2017. PMID: 28341975

10

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Yuste-Checa P, Vega AI, Martín-Higueras C, Medrano C, Gámez A, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. PLoS One. 2017 Jun 29;12(6):e0179456. doi: 10.1371/journal.pone.0179456. eCollection 2017. PLoS One. 2017. PMID: 28662078 Free PMC article.

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