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Thomas Braulke

Showing results (21-30 of 106) with videos related to

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American Journal of Medical Genetics. Part A|August 12, 2005
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotypeStephan Tiede, Nicole Muschol, Gert Reutter, et al.
Journal of Lipid Research|June 26, 2015
Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription controlSarah Klünder, Jörg Heeren, Sandra Markmann, et al.
Biochimica Et Biophysica Acta|August 27, 2009
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gammaSandra Pohl, Stephan Tiede, Monica Castrichini, et al.
FEBS Letters|October 14, 2016
Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferaseRenata Voltolini Velho, Raffaella De Pace, Henning Tidow, et al.
Biological Chemistry|November 15, 2008
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cellsDiana Klein, Afshin Yaghootfam, Ullrich Matzner, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndromeNicole Muschol, Sandra Pohl, Ann Meyer, et al.
The Biochemical Journal|September 26, 2002
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophagesNicole Muschol, Ulrich Matzner, Stephan Tiede, et al.
Pflugers Archiv : European Journal of Physiology|March 28, 2008
Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric aciduriasYohannes Hagos, Wolfgang Krick, Thomas Braulke, et al.
Human Genetics|January 11, 2003
Mutational analysis in longest known survivor of mucopolysaccharidosis type VIIStephan Storch, Birgit Wittenstein, Rafiqul Islam, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnosticsSandra Pohl, Marisa Encarnacão, Monica Castrichini, et al.
Pageof 11

Showing results (21-30 of 106) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|August 12, 2005
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotypeStephan Tiede, Nicole Muschol, Gert Reutter, et al.
Journal of Lipid Research|June 26, 2015
Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription controlSarah Klünder, Jörg Heeren, Sandra Markmann, et al.
Biochimica Et Biophysica Acta|August 27, 2009
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gammaSandra Pohl, Stephan Tiede, Monica Castrichini, et al.
FEBS Letters|October 14, 2016
Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferaseRenata Voltolini Velho, Raffaella De Pace, Henning Tidow, et al.
Biological Chemistry|November 15, 2008
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cellsDiana Klein, Afshin Yaghootfam, Ullrich Matzner, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndromeNicole Muschol, Sandra Pohl, Ann Meyer, et al.
The Biochemical Journal|September 26, 2002
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophagesNicole Muschol, Ulrich Matzner, Stephan Tiede, et al.
Pflugers Archiv : European Journal of Physiology|March 28, 2008
Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric aciduriasYohannes Hagos, Wolfgang Krick, Thomas Braulke, et al.
Human Genetics|January 11, 2003
Mutational analysis in longest known survivor of mucopolysaccharidosis type VIIStephan Storch, Birgit Wittenstein, Rafiqul Islam, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnosticsSandra Pohl, Marisa Encarnacão, Monica Castrichini, et al.
Pageof 11