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

Autor: 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

Publikováno v: In Genetics in Medicine December 2021 23(12):2369-2377

Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples.

Autor: Saarela D; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Lis P; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Gomes S; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Nirujogi RS; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Dong W; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, United States of America., Rawat ES; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, United States of America., Glendinning S; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Zeneviciute K; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Bagnoli E; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Fasimoye R; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Lin C; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, United States of America., Nyame K; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, United States of America., Boros FA; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany., Zunke F; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany., Lamoliatte F; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Elshani S; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Jaconelli M; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Jans JJ; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, University Utrecht, Utrecht, Netherlands., Huisman MA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, University Utrecht, Utrecht, Netherlands., Posern C; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Westermann LM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schulz A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, University Utrecht, Utrecht, Netherlands., Alessi DR; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Abu-Remaileh M; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, United States of America., Sammler EM; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Dec 26. Date of Electronic Publication: 2024 Dec 26.