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390 Publikationen

2019 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2937586
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Schlotawa, Lars, Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.. JIMD reports 49 (1). , 2019
PUB | DOI | PubMed | Europe PMC
 
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2934622
Exploring the Sulfatase 1 Catch Bond Free Energy Landscape using Jarzynski's Equality
Walhorn, Volker, Exploring the Sulfatase 1 Catch Bond Free Energy Landscape using Jarzynski's Equality. BIOPHYSICAL JOURNAL 116 (3). , 2019
PUB | DOI | WoS
 
2019 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2934113
Formylglycine-generating enzymes for site-specific bioconjugation
Krüger, Tobias, Formylglycine-generating enzymes for site-specific bioconjugation. BIOLOGICAL CHEMISTRY 400 (3). , 2019
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2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913
Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency
Schlotawa, Lars, Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency. MOLECULAR GENETICS AND METABOLISM 126 (2). San Diego, 2019
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2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914
Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings
Silva, Thiag O., Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings. MOLECULAR GENETICS AND METABOLISM 126 (2). , 2019
PUB | DOI | WoS
 
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018 OA
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
Schlotawa, Lars, Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase. Cell Reports 24 (1). , 2018
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2920942
Two-fold Bioorthogonal Derivatization by Different Formylglycine-Generating Enzymes
Krüger, Tobias, Two-fold Bioorthogonal Derivatization by Different Formylglycine-Generating Enzymes. ANGEWANDTE CHEMIE-INTERNATIONAL EDITION 57 (24). , 2018
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2931507
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
Khateb, Samer, A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. GENETICS IN MEDICINE 20 (9). , 2018
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2933928
The function of the oxylipin 12-oxophytodienoic acid in cell signaling, stress acclimation, and development
Maynard, Daniel, The function of the oxylipin 12-oxophytodienoic acid in cell signaling, stress acclimation, and development. JOURNAL OF EXPERIMENTAL BOTANY 69 (22). , 2018
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2920271
Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice
Stroobants, Stijn, Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. FRONTIERS IN BEHAVIORAL NEUROSCIENCE 12 (). , 2018
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2919061
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
Ahrens-Nicklas, Rebecca, Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. MOLECULAR GENETICS AND METABOLISM 123 (3). , 2018
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2918283
Genetically modified human type II collagen for N- and C-terminal covalent tagging
Wieczorek, Andrew, Genetically modified human type II collagen for N- and C-terminal covalent tagging. CANADIAN JOURNAL OF CHEMISTRY 96 (2). , 2018
PUB | DOI | WoS
 
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2909071
Loss of HSulf-1: The Missing Link between Autophagy and Lipid Droplets in Ovarian Cancer
Roy, Debarshi, Loss of HSulf-1: The Missing Link between Autophagy and Lipid Droplets in Ovarian Cancer. SCIENTIFIC REPORTS 7 (). , 2017
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2909150
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings
Pan, Xuefang, Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. PLoS One 12 (2). , 2017
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Jaszczuk, Ilona, Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. MOLECULAR GENETICS AND METABOLISM 121 (3). , 2017
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2908778
Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase
Dhamale, Omkar P., Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase. ACS Chemical Biology 12 (2). , 2017
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2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2904124
Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice
Kruszewski, Katharina, Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 57 (3). , 2016
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2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2905616 OA
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease
Wolf, Heike, A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Disease Models & Mechanisms 9 (9). , 2016
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2784664
Sulf1 and Sulf2 Differentially Modulate Heparan Sulfate Proteoglycan Sulfation during Postnatal Cerebellum Development: Evidence for Neuroprotective and Neurite Outgrowth Promoting Functions
Kalus, Ina, Sulf1 and Sulf2 Differentially Modulate Heparan Sulfate Proteoglycan Sulfation during Postnatal Cerebellum Development: Evidence for Neuroprotective and Neurite Outgrowth Promoting Functions. PLoS ONE 10 (10). , 2015
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction
Peng, Jianhe, Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal 282 (17). , 2015
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