Ludwig NF - 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. Among authors: ludwig nf. Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30882951

2

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. Among authors: ludwig nf. 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

3

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. Among authors: ludwig nf. 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.

4

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. 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.

5

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. 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.

6

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. 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

7

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. 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.

8

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: ludwig nf. Hum Mutat. 2020 Jan;41(1):133-139. doi: 10.1002/humu.23928. Epub 2019 Oct 14. Hum Mutat. 2020. PMID: 31579991

9

Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.

Sachs W, Sachs M, Krüger E, Zielinski S, Kretz O, Huber TB, Baranowsky A, Westermann LM, Voltolini Velho R, Ludwig NF, Yorgan TA, Di Lorenzo G, Kollmann K, Braulke T, Schwartz IV, Schinke T, Danyukova T, Pohl S, Meyer-Schwesinger C. Sachs W, et al. Among authors: ludwig nf. J Am Soc Nephrol. 2020 Aug;31(8):1796-1814. doi: 10.1681/ASN.2019090960. Epub 2020 Jul 8. J Am Soc Nephrol. 2020. PMID: 32641396 Free PMC article.

10

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.

Westermann LM, Fleischhauer L, Vogel J, Jenei-Lanzl Z, Ludwig NF, Schau L, Morellini F, Baranowsky A, Yorgan TA, Di Lorenzo G, Schweizer M, de Souza Pinheiro B, Guarany NR, Sperb-Ludwig F, Visioli F, Oliveira Silva T, Soul J, Hendrickx G, Wiegert JS, Schwartz IVD, Clausen-Schaumann H, Zaucke F, Schinke T, Pohl S, Danyukova T. Westermann LM, et al. Among authors: ludwig nf. Dis Model Mech. 2020 Nov 18;13(11):dmm046425. doi: 10.1242/dmm.046425. Dis Model Mech. 2020. PMID: 33023972 Free PMC article.

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