Velho RV - Search Results

1

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

2

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.

3

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.

4

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.

5

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.

De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. De Pace R, et al. Among authors: velho rv. Hum Mol Genet. 2015 Dec 1;24(23):6826-35. doi: 10.1093/hmg/ddv387. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385638

6

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

7

Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase.

Velho RV, De Pace R, Tidow H, Braulke T, Pohl S. Velho RV, et al. FEBS Lett. 2016 Dec;590(23):4287-4295. doi: 10.1002/1873-3468.12456. Epub 2016 Oct 25. FEBS Lett. 2016. PMID: 27736005 Free article.

8

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.

9

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing.

Ludwig NF, Sperb-Ludwig F, Velho RV, Schwartz IVD. Ludwig NF, et al. Among authors: velho rv. Mol Genet Metab Rep. 2017 Mar 1;11:92-93. doi: 10.1016/j.ymgmr.2017.02.002. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28649512 Free PMC article. No abstract available.

10

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.

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