Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 101

1.

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.

J Inherit Metab Dis. 2013 Sep;36(5):731-40. doi: 10.1007/s10545-012-9545-3. Epub 2012 Oct 3.

PMID:
23053474
[PubMed - indexed for MEDLINE]
2.

Functional characterization of PCCA mutations causing propionic acidemia.

Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR.

Biochim Biophys Acta. 2002 Nov 20;1588(2):119-25.

PMID:
12385775
[PubMed - indexed for MEDLINE]
3.

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.

Mol Genet Metab. 2003 Jan;78(1):59-67.

PMID:
12559849
[PubMed - indexed for MEDLINE]
4.

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Ugarte M, Desviat LR.

Hum Mutat. 2012 Jun;33(6):973-80. doi: 10.1002/humu.22047. Epub 2012 Apr 16.

PMID:
22334403
[PubMed - indexed for MEDLINE]
5.

[Gene mutation analysis in patients with propionic acidemia].

Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF.

Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):416-20. Chinese.

PMID:
19099776
[PubMed - indexed for MEDLINE]
6.

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

Pérez-Cerdá C, Clavero S, Pérez B, Rodríguez-Pombo P, Desviat LR, Ugarte M.

Biochim Biophys Acta. 2003 May 20;1638(1):43-9.

PMID:
12757933
[PubMed - indexed for MEDLINE]
7.

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts.

Gallego-Villar L, Pérez B, Ugarte M, Desviat LR, Richard E.

Biochem Biophys Res Commun. 2014 Sep 26;452(3):457-61. doi: 10.1016/j.bbrc.2014.08.091. Epub 2014 Aug 23.

PMID:
25159844
[PubMed - in process]
8.

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP.

Hum Mutat. 2002 Jun;19(6):629-40.

PMID:
12007220
[PubMed - indexed for MEDLINE]
9.

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.

Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.

Hum Genet. 1997 Nov;101(1):93-6.

PMID:
9385377
[PubMed - indexed for MEDLINE]
11.

Mutation analysis in 54 propionic acidemia patients.

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO.

J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27.

PMID:
22033733
[PubMed - indexed for MEDLINE]
12.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.

Hum Mutat. 1999;14(4):275-82. Review.

PMID:
10502773
[PubMed - indexed for MEDLINE]
13.

Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

Jiang H, Rao KS, Yee VC, Kraus JP.

J Biol Chem. 2005 Jul 29;280(30):27719-27. Epub 2005 May 12.

PMID:
15890657
[PubMed - indexed for MEDLINE]
Free Article
14.

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.

World J Pediatr. 2014 Feb;10(1):64-8. doi: 10.1007/s12519-014-0454-4. Epub 2014 Jan 25.

PMID:
24464666
[PubMed - indexed for MEDLINE]
15.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B.

Am J Hum Genet. 2007 Dec;81(6):1262-70.

PMID:
17966092
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

Campeau E, Dupuis L, León-Del-Rio A, Gravel R.

Mol Genet Metab. 1999 May;67(1):11-22.

PMID:
10329019
[PubMed - indexed for MEDLINE]
17.

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M.

Am J Hum Genet. 1998 Aug;63(2):360-9.

PMID:
9683601
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M.

Am J Hum Genet. 2000 Jul;67(1):203-6. Epub 2000 May 16. Erratum in: Am J Hum Genet 2000 Jul;67(1):270.

PMID:
10820128
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

Mol Genet Metab. 2011 Feb;102(2):134-8. doi: 10.1016/j.ymgme.2010.10.013. Epub 2010 Nov 5.

PMID:
21094621
[PubMed - indexed for MEDLINE]
20.

Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.

Lamhonwah AM, Leclerc D, Loyer M, Clarizio R, Gravel RA.

Genomics. 1994 Feb;19(3):500-5.

PMID:
8188292
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk