Publications by authors named "Nataniel Ludwig"

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In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.
Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz

Genet Mol Biol· December 2023

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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Giorgia Di Lorenzo, Lena M Westermann, Timur A Yorgan, Julian Stürznickel, Nataniel F Ludwig, Fernanda Sperb-Ludwig

Genet Med· December 2021

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Study of anesthetics for euthanasia in rats and mice: A systematic review and meta-analysis on the impact upon biological outcomes (SAFE-RM).
Santiago Alonso Tobar Leitão, Douglas Dos Santos Soares, Nelson Carvas Junior, Rafael Zimmer, Nataniel Floriano Ludwig

Life Sci· November 2021

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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Fernanda Sperb-Ludwig

Dis Model Mech· November 2020

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Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
Wiebke Sachs, Marlies Sachs, Elke Krüger, Stephanie Zielinski, Oliver Kretz, Nataniel Floriano Ludwig

J Am Soc Nephrol· August 2020

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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.
Tatyana Danyukova, Nataniel F Ludwig, Renata V Velho, Frederike L Harms, Nilay Güneş

Hum Mutat· January 2020

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Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert

Genet Mol Biol· November 2019

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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Renata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, Nataniel F Ludwig, Michael J Friez

Hum Mutat· July 2019

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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Nataniel Floriano Ludwig, Renata Voltolini Velho, Fernanda Sperb-Ludwig, Angelina Xavier Acosta, Erlane Marques Ribeiro

Int J Biochem Cell Biol· November 2017

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Next-generation sequencing corroborates a probable variation previously detected by Sanger sequencing.
Nataniel Floriano Ludwig, Fernanda Sperb-Ludwig, Renata Voltolini Velho, Ida Vanessa D Schwartz

Mol Genet Metab Rep· June 2017

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Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Renata Voltolini Velho, Nataniel Floriano Ludwig, Taciane Alegra, Fernanda Sperb-Ludwig, Nicole Ruas Guarany

J Hum Genet· June 2016

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A or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.
Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira

Mol Genet Metab Rep· February 2014

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