Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 106

1.

Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.

Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, Barry MA.

Mol Ther. 2013 Jul;21(7):1316-23. doi: 10.1038/mt.2013.68. Epub 2013 May 7.

2.

Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.

Guenzel AJ, Hillestad ML, Matern D, Barry MA.

Hum Gene Ther. 2014 Sep;25(9):837-43. doi: 10.1089/hum.2014.012. Epub 2014 Aug 21.

3.

Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.

Chandler RJ, Chandrasekaran S, Carrillo-Carrasco N, Senac JS, Hofherr SE, Barry MA, Venditti CP.

Hum Gene Ther. 2011 Apr;22(4):477-81. doi: 10.1089/hum.2010.164. Epub 2011 Feb 16.

4.

Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.

Guenzel AJ, Collard R, Kraus JP, Matern D, Barry MA.

Hum Gene Ther. 2015 Mar;26(3):153-60. doi: 10.1089/hum.2014.126.

5.

Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.

Hofherr SE, Senac JS, Chen CY, Palmer DJ, Ng P, Barry MA.

Hum Gene Ther. 2009 Feb;20(2):169-80. doi: 10.1089/hum.2008.158.

6.

[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
7.

Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.

Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A.

Mol Genet Metab. 2016 Mar;117(3):355-362. doi: 10.1016/j.ymgme.2015.12.008. Epub 2015 Dec 24.

8.

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene.

Miyazaki T, Ohura T, Kobayashi M, Shigematsu Y, Yamaguchi S, Suzuki Y, Hata I, Aoki Y, Yang X, Minjares C, Haruta I, Uto H, Ito Y, Müller U.

J Biol Chem. 2001 Sep 21;276(38):35995-9. Epub 2001 Jul 18.

9.

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT.

Biochem Genet. 2014 Oct;52(9-10):415-29. doi: 10.1007/s10528-014-9657-6. Epub 2014 May 27.

PMID:
24863100
10.

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC.

Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26.

PMID:
27227689
11.

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.

J Inherit Metab Dis. 2017 Nov 20. doi: 10.1007/s10545-017-0111-x. [Epub ahead of print]

PMID:
29159707
12.

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.

13.

[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].

Chen Z, Wen P, Wang G, Hu Y, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):26-30. doi: 10.3760/cma.j.issn.1003-9406.2015.01.006. Chinese.

PMID:
25636094
14.

Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.

Gotoh K, Nakajima Y, Tajima G, Watanabe Y, Hotta Y, Kataoka T, Kawade Y, Sugiyama N, Ito T, Kimura K, Maeda Y.

J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Mar 1;1046:195-199. doi: 10.1016/j.jchromb.2017.02.003. Epub 2017 Feb 6.

PMID:
28189105
15.

Propionic acidemia in the Arab World.

Zayed H.

Gene. 2015 Jun 15;564(2):119-24. doi: 10.1016/j.gene.2015.04.019. Epub 2015 Apr 9. Review.

PMID:
25865301
16.

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
17.

In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.

Gallego-Villar L, Rivera-Barahona A, Cuevas-Martín C, Guenzel A, Pérez B, Barry MA, Murphy MP, Logan A, Gonzalez-Quintana A, Martín MA, Medina S, Gil-Izquierdo A, Cuezva JM, Richard E, Desviat LR.

Free Radic Biol Med. 2016 Jul;96:1-12. doi: 10.1016/j.freeradbiomed.2016.04.007. Epub 2016 Apr 12.

PMID:
27083476
18.

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
19.

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
20.

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

Supplemental Content

Support Center