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Items: 1 to 50 of 59

1.

Tailoring the AAV2 capsid vector for bone-targeting.

Alméciga-Díaz CJ, Montaño AM, Barrera LA, Tomatsu S.

Pediatr Res. 2018 Oct 15. doi: 10.1038/s41390-018-0095-8. [Epub ahead of print]

PMID:
30323349
2.

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.

Vu M, Li R, Baskfield A, Lu B, Farkhondeh A, Gorshkov K, Motabar O, Beers J, Chen G, Zou J, Espejo-Mojica AJ, Rodríguez-López A, Alméciga-Díaz CJ, Barrera LA, Jiang X, Ory DS, Marugan JJ, Zheng W.

Orphanet J Rare Dis. 2018 Sep 17;13(1):152. doi: 10.1186/s13023-018-0886-3.

3.

Specific IgY anti-group 1 dust mite allergens induced by unglycosylated synthetic oligopeptides

Egea E, Mendoza D, Garavito G, Espejo Á, Lizaraso LM, Navarro E, Barrera LA.

Biomedica. 2018 Jun 15;38(2):232-243. doi: 10.7705/biomedica.v38i0.3689.

PMID:
30184353
4.

Publisher Correction: Pairwise library screen systematically interrogates Staphylococcus aureus Cas9 specificity in human cells.

Tycko J, Barrera LA, Huston NC, Friedland AE, Wu X, Gootenberg JS, Abudayyeh OO, Myer VE, Wilson CJ, Hsu PD.

Nat Commun. 2018 Aug 28;9(1):3542. doi: 10.1038/s41467-018-06029-z.

5.

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.

Echeverri OY, Guevara JM, Espejo-Mojica ÁJ, Ardila A, Pulido N, Reyes M, Rodriguez-Lopez A, Alméciga-Díaz CJ, Barrera LA.

Orphanet J Rare Dis. 2018 Aug 16;13(1):141. doi: 10.1186/s13023-018-0879-2. Review.

6.

Pairwise library screen systematically interrogates Staphylococcus aureus Cas9 specificity in human cells.

Tycko J, Barrera LA, Huston NC, Friedland AE, Wu X, Gootenberg JS, Abudayyeh OO, Myer VE, Wilson CJ, Hsu PD.

Nat Commun. 2018 Jul 27;9(1):2962. doi: 10.1038/s41467-018-05391-2. Erratum in: Nat Commun. 2018 Aug 28;9(1):3542.

7.

Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".

Wilson CJ, Fennell T, Bothmer A, Maeder ML, Reyon D, Cotta-Ramusino C, Fernandez CA, Marco E, Barrera LA, Jayaram H, Albright CF, Cox GF, Church GM, Myer VE.

Nat Methods. 2018 Apr;15(4):236-237. doi: 10.1038/nmeth.4552. Epub 2018 Mar 30. No abstract available.

PMID:
29600989
8.

UDiTaS™, a genome editing detection method for indels and genome rearrangements.

Giannoukos G, Ciulla DM, Marco E, Abdulkerim HS, Barrera LA, Bothmer A, Dhanapal V, Gloskowski SW, Jayaram H, Maeder ML, Skor MN, Wang T, Myer VE, Wilson CJ.

BMC Genomics. 2018 Mar 21;19(1):212. doi: 10.1186/s12864-018-4561-9.

9.

Identification of Human Lineage-Specific Transcriptional Coregulators Enabled by a Glossary of Binding Modules and Tunable Genomic Backgrounds.

Mariani L, Weinand K, Vedenko A, Barrera LA, Bulyk ML.

Cell Syst. 2017 Dec 27;5(6):654. doi: 10.1016/j.cels.2017.12.011. No abstract available.

10.

Identification of Human Lineage-Specific Transcriptional Coregulators Enabled by a Glossary of Binding Modules and Tunable Genomic Backgrounds.

Mariani L, Weinand K, Vedenko A, Barrera LA, Bulyk ML.

Cell Syst. 2017 Sep 27;5(3):187-201.e7. doi: 10.1016/j.cels.2017.06.015. Erratum in: Cell Syst. 2017 Dec 27;5(6):654.

11.

Cellular scale model of growth plate: An in silico model of chondrocyte hypertrophy.

Castro-Abril HA, Guevara JM, Moncayo MA, Shefelbine SJ, Barrera LA, Garzón-Alvarado DA.

J Theor Biol. 2017 Sep 7;428:87-97. doi: 10.1016/j.jtbi.2017.05.015. Epub 2017 May 17.

PMID:
28526527
12.

Characterization of the interplay between DNA repair and CRISPR/Cas9-induced DNA lesions at an endogenous locus.

Bothmer A, Phadke T, Barrera LA, Margulies CM, Lee CS, Buquicchio F, Moss S, Abdulkerim HS, Selleck W, Jayaram H, Myer VE, Cotta-Ramusino C.

Nat Commun. 2017 Jan 9;8:13905. doi: 10.1038/ncomms13905.

13.

Mitochondrial Functional Changes Characterization in Young and Senescent Human Adipose Derived MSCs.

Stab BR 2nd, Martinez L, Grismaldo A, Lerma A, Gutiérrez ML, Barrera LA, Sutachan JJ, Albarracín SL.

Front Aging Neurosci. 2016 Dec 15;8:299. doi: 10.3389/fnagi.2016.00299. eCollection 2016.

14.

CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types.

Nelms BD, Waldron L, Barrera LA, Weflen AW, Goettel JA, Guo G, Montgomery RK, Neutra MR, Breault DT, Snapper SB, Orkin SH, Bulyk ML, Huttenhower C, Lencer WI.

Genome Biol. 2016 Sep 29;17(1):201.

15.

Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris.

Rodríguez-López A, Alméciga-Díaz CJ, Sánchez J, Moreno J, Beltran L, Díaz D, Pardo A, Ramírez AM, Espejo-Mojica AJ, Pimentel L, Barrera LA.

Sci Rep. 2016 Jul 5;6:29329. doi: 10.1038/srep29329.

16.

Survey of variation in human transcription factors reveals prevalent DNA binding changes.

Barrera LA, Vedenko A, Kurland JV, Rogers JM, Gisselbrecht SS, Rossin EJ, Woodard J, Mariani L, Kock KH, Inukai S, Siggers T, Shokri L, Gordân R, Sahni N, Cotsapas C, Hao T, Yi S, Kellis M, Daly MJ, Vidal M, Hill DE, Bulyk ML.

Science. 2016 Mar 25;351(6280):1450-1454. doi: 10.1126/science.aad2257. Epub 2016 Mar 24.

17.

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.

Tomatsu S, Sawamoto K, Shimada T, Bober MB, Kubaski F, Yasuda E, Mason RW, Khan S, Alméciga-Díaz CJ, Barrera LA, Mackenzie WG, Orii T.

Expert Opin Orphan Drugs. 2015 Nov 1;3(11):1279-1290. Epub 2015 Oct 29.

18.

Human recombinant lysosomal enzymes produced in microorganisms.

Espejo-Mojica ÁJ, Alméciga-Díaz CJ, Rodríguez A, Mosquera Á, Díaz D, Beltrán L, Díaz S, Pimentel N, Moreno J, Sánchez J, Sánchez OF, Córdoba H, Poutou-Piñales RA, Barrera LA.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):13-23. doi: 10.1016/j.ymgme.2015.06.001. Epub 2015 Jun 6. Review.

PMID:
26071627
19.

Context influences on TALE-DNA binding revealed by quantitative profiling.

Rogers JM, Barrera LA, Reyon D, Sander JD, Kellis M, Joung JK, Bulyk ML.

Nat Commun. 2015 Jun 11;6:7440. doi: 10.1038/ncomms8440.

20.

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T.

Drug Des Devel Ther. 2015 Apr 1;9:1937-53. doi: 10.2147/DDDT.S68562. eCollection 2015. Review.

21.

Therapies for the bone in mucopolysaccharidoses.

Tomatsu S, Alméciga-Díaz CJ, Montaño AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T.

Mol Genet Metab. 2015 Feb;114(2):94-109. doi: 10.1016/j.ymgme.2014.12.001. Epub 2014 Dec 9. Review.

22.

Growth plate stress distribution implications during bone development: a simple framework computational approach.

Guevara JM, Moncayo MA, Vaca-González JJ, Gutiérrez ML, Barrera LA, Garzón-Alvarado DA.

Comput Methods Programs Biomed. 2015 Jan;118(1):59-68. doi: 10.1016/j.cmpb.2014.10.007. Epub 2014 Oct 17.

PMID:
25453383
23.

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome).

Tomatsu S, Alméciga-Díaz CJ, Barbosa H, Montaño AM, Barrera LA, Shimada T, Yasuda E, Mackenzie WG, Mason RW, Suzuki Y, Orii KE, Orii T.

Expert Opin Orphan Drugs. 2013 Oct 1;1(10):805-818.

24.

UniPROBE, update 2015: new tools and content for the online database of protein-binding microarray data on protein-DNA interactions.

Hume MA, Barrera LA, Gisselbrecht SS, Bulyk ML.

Nucleic Acids Res. 2015 Jan;43(Database issue):D117-22. doi: 10.1093/nar/gku1045. Epub 2014 Nov 5.

25.

Morquio A syndrome: diagnosis and current and future therapies.

Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:141-51. Review.

26.

Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.

Olarte-Avellaneda S, Rodríguez-López A, Alméciga-Díaz CJ, Barrera LA.

Mol Biol Rep. 2014 Nov;41(11):7073-88. doi: 10.1007/s11033-014-3383-3. Epub 2014 Oct 7.

PMID:
25287660
27.

The NF-κB genomic landscape in lymphoblastoid B cells.

Zhao B, Barrera LA, Ersing I, Willox B, Schmidt SC, Greenfeld H, Zhou H, Mollo SB, Shi TT, Takasaki K, Jiang S, Cahir-McFarland E, Kellis M, Bulyk ML, Kieff E, Gewurz BE.

Cell Rep. 2014 Sep 11;8(5):1595-606. doi: 10.1016/j.celrep.2014.07.037. Epub 2014 Aug 21.

28.

Highly parallel assays of tissue-specific enhancers in whole Drosophila embryos.

Gisselbrecht SS, Barrera LA, Porsch M, Aboukhalil A, Estep PW 3rd, Vedenko A, Palagi A, Kim Y, Zhu X, Busser BW, Gamble CE, Iagovitina A, Singhania A, Michelson AM, Bulyk ML.

Nat Methods. 2013 Aug;10(8):774-80. doi: 10.1038/nmeth.2558. Epub 2013 Jul 14.

29.

Effect of culture conditions and signal peptide on production of human recombinant N-acetylgalactosamine-6-sulfate sulfatase in Escherichia coli BL21.

Hernández A, Velásquez O, Leonardi F, Soto C, Rodríguez A, Lizaraso L, Mosquera Á, Bohórquez J, Coronado A, Espejo Á, Sierra R, Sánchez OF, Alméciga-Díaz CJ, Barrera LA.

J Microbiol Biotechnol. 2013 May;23(5):689-98.

30.

Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.

Morales-Álvarez ED, Rivera-Hoyos CM, Baena-Moncada AM, Landázuri P, Poutou-Piñales RA, Sáenz-Suárez H, Barrera LA, Echeverri-Peña OY.

J Microbiol. 2013 Apr;51(2):213-21. doi: 10.1007/s12275-013-2416-2. Epub 2013 Apr 27.

PMID:
23625223
31.

Current and emerging treatments and surgical interventions for Morquio A syndrome: a review.

Tomatsu S, Mackenzie WG, Theroux MC, Mason RW, Thacker MM, Shaffer TH, Montaño AM, Rowan D, Sly W, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Yasuda E, Ruhnke K, Suzuki Y, Orii T.

Res Rep Endocr Disord. 2012 Dec;2012(2):65-77.

32.

EpiFire: An open source C++ library and application for contact network epidemiology.

Hladish T, Melamud E, Barrera LA, Galvani A, Meyers LA.

BMC Bioinformatics. 2012 May 4;13:76. doi: 10.1186/1471-2105-13-76.

33.

The need for worldwide policy and action plans for rare diseases.

Forman J, Taruscio D, Llera VA, Barrera LA, Coté TR, Edfjäll C, Gavhed D, Haffner ME, Nishimura Y, Posada M, Tambuyzer E, Groft SC, Henter JI; International Conference for Rare Diseases and Orphan Drugs (ICORD).

Acta Paediatr. 2012 Aug;101(8):805-7. doi: 10.1111/j.1651-2227.2012.02705.x. Epub 2012 May 11.

34.

Relationship among metabolic control, oral parameters and self-efficacy in diabetic patients.

Serrano C, Pardo G, Barrera LA, Gamboa L, Másmela A, Zorro S.

Acta Odontol Latinoam. 2011;24(1):53-60.

PMID:
22010407
35.

Development of a sandwich enzyme linked immunosorbent assay (ELISA) for the quantification of iduronate-2-sulfate sulfatase.

Sosa AC, Espejo AJ, Rodriguez EA, Lizaraso LM, Rojas A, Guevara J, Echeverri OY, Barrera LA.

J Immunol Methods. 2011 May 31;368(1-2):64-70. doi: 10.1016/j.jim.2011.03.004. Epub 2011 Apr 5.

PMID:
21447345
36.

Ethical aspects on rare diseases.

Barrera LA, Galindo GC.

Adv Exp Med Biol. 2010;686:493-511. doi: 10.1007/978-90-481-9485-8_27. Review.

PMID:
20824462
37.

Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.

Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA.

FEBS J. 2010 Sep;277(17):3608-19. doi: 10.1111/j.1742-4658.2010.07769.x.

38.

Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21.

Rodríguez A, Espejo AJ, Hernández A, Velásquez OL, Lizaraso LM, Cordoba HA, Sánchez OF, Alméciga-Díaz CJ, Barrera LA.

J Ind Microbiol Biotechnol. 2010 Nov;37(11):1193-201. doi: 10.1007/s10295-010-0766-x. Epub 2010 Jun 27.

PMID:
20582614
39.

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry.

Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T.

Mol Genet Metab. 2010 Feb;99(2):124-31. doi: 10.1016/j.ymgme.2009.10.001. Epub 2009 Oct 12.

PMID:
19932038
40.

[Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease].

Gutiérrez MA, García-Vallejo F, Tomatsu S, Cerón F, Alméciga-Díaz CJ, Domínguez MC, Barrera LA.

Biomedica. 2008 Sep;28(3):448-59. Spanish.

41.

Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase.

Alméciga-Díaz CJ, Rueda-Paramo MA, Espejo AJ, Echeverri OY, Montaño A, Tomatsu S, Barrera LA.

Mol Biol Rep. 2009 Sep;36(7):1863-70. doi: 10.1007/s11033-008-9392-3. Epub 2008 Nov 7.

PMID:
18989752
42.

[Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase].

Sáenz H, Lareo L, Poutou RA, Sosa AC, Barrera LA.

Biomedica. 2007 Mar;27(1):7-20. Epub 2007 May 31. Spanish.

43.

[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype].

Wilches R, Vega H, Echeverri O, Barrera LA.

Biomedica. 2006 Sep;26(3):434-41. Spanish.

PMID:
17176007
44.

Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA.

Mol Genet Metab. 2005 Dec;86(4):466-72. Epub 2005 Sep 26.

PMID:
16185907
45.

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.

Tomatsu S, Gutierrez MA, Ishimaru T, Peña OM, Montaño AM, Maeda H, Velez-Castrillon S, Nishioka T, Fachel AA, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Noguchi A.

J Inherit Metab Dis. 2005;28(5):743-57.

PMID:
16151906
46.
47.

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.

Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon SV, Gutierrez MA, Nishioka T, Fachel AA, Orii KO, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Haskins M, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Okuyama T, Tanaka A, Noguchi A.

J Inherit Metab Dis. 2005;28(2):187-202.

PMID:
15877208
48.

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A.

J Hum Genet. 2004;49(9):490-4. Epub 2004 Aug 11.

PMID:
15309681
49.

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A.

Pediatr Res. 2004 Apr;55(4):592-7. Epub 2004 Jan 7.

PMID:
14711889
50.

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.

Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N.

Hum Genet. 1997 Nov;101(1):97-101.

PMID:
9385378

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