Velho RV - Search Results

1

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV. Cury GK, et al. Among authors: velho rv. Gene. 2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6. Gene. 2013. PMID: 23566849 Free article.

2

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

Velho RV, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço CM, Schwartz IV, Braulke T, Pohl S. Velho RV, et al. Hum Mol Genet. 2015 Jun 15;24(12):3497-505. doi: 10.1093/hmg/ddv100. Epub 2015 Mar 18. Hum Mol Genet. 2015. PMID: 25788519 Free PMC article.

3

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals.

Velho RV, Sperb-Ludwig F, Schwartz IV. Velho RV, et al. An Acad Bras Cienc. 2015 Aug;87(2 Suppl):1375-88. doi: 10.1590/0001-3765201520140711. Epub 2015 Aug 4. An Acad Bras Cienc. 2015. PMID: 26247150 Free article. Review.

4

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV. Velho RV, et al. J Hum Genet. 2016 Jun;61(6):555-60. doi: 10.1038/jhg.2016.13. Epub 2016 Mar 3. J Hum Genet. 2016. PMID: 26935170

5

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

Velho RV, Alegra T, Sperb F, Ludwig NF, Saraiva-Pereira ML, Matte U, Schwartz IV. Velho RV, et al. Mol Genet Metab Rep. 2014 Feb 27;1:98-102. doi: 10.1016/j.ymgmr.2014.01.002. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896079 Free PMC article.

6

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: velho rv. Mol Genet Metab Rep. 2014 Dec 5;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649523 Free PMC article.

7

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD. Ludwig NF, et al. Among authors: velho rv. Int J Biochem Cell Biol. 2017 Nov;92:90-94. doi: 10.1016/j.biocel.2017.09.006. Epub 2017 Sep 14. Int J Biochem Cell Biol. 2017. PMID: 28918368

8

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S. Velho RV, et al. Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30882951

9

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Siebert M, Jobim M, Vairo F, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: velho rv. Genet Mol Biol. 2019 Jul-Sep;42(3):571-573. doi: 10.1590/1678-4685-GMB-2018-0246. Epub 2019 Nov 14. Genet Mol Biol. 2019. PMID: 31188938 Free PMC article.

10

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S. Danyukova T, et al. Among authors: velho rv. Hum Mutat. 2020 Jan;41(1):133-139. doi: 10.1002/humu.23928. Epub 2019 Oct 14. Hum Mutat. 2020. PMID: 31579991

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