Search Results - "Ludwig, Nataniel F."

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients by Ludwig, Nataniel F, Sperb-Ludwig, Fernanda, Randon, Dévora N, Bernardi, Pricila, Giuliani, Liane R, Moreno, Carolina A, Cavalcanti, Denise P, Silva, Luiz CS da, Schwartz, Ida V D

“…Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by…”
Get full text

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations by Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra

“…Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited…”
Get full text

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 by Danyukova, Tatyana, Ludwig, Nataniel F., Velho, Renata V., Harms, Frederike L., Güneş, Nilay, Tidow, Henning, Schwartz, Ida V., Tüysüz, Beyhan, Pohl, Sandra

“…Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β‐precursor of…”
Get full text

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 by Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra

“…Purpose Pathogenic variants in GNPTAB and GNPTG , encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta,…”
Get full text