Nataniel Floriano Ludwig

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

Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova et al. · Human Mutation · 2019 · 50 citations

Lysosomal Storage Disease, Genetics, Glycobiology +17

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 et al. · The International Journal of Biochemistry & Cell Biology · 2017 · 14 citations

Distinct Mechanisms, Signal Transduction, Genetic Disorder +10

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 et al. · Journal of Human Genetics · 2016 · 13 citations · Full text

Vivo Glcnac-1-phosphotransferase, Genetic Disorder, Genetics +10

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

Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb et al. · Molecular Genetics and Metabolism Reports · 2014 · 11 citations · Full text

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 et al. · Disease Models & Mechanisms · 2020 · 10 citations · Full text