Zobrazeno 1 - 10
of 2 891
pro vyhledávání: '"Braulke, T."'
Autor:
Brauer BK; Institute of Biochemistry, Kiel University, Kiel, Germany., Chen Z; Institute of Clinical Molecular Biology, Kiel University and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Beirow F; Institute of Biochemistry, Kiel University, Kiel, Germany., Li J; Institute for Biochemistry and Molecular Biology, Medical Faculty, Rheinische Friedrich-Wilhelms-University of Bonn, Bonn, Germany., Meisinger D; Institute of Biochemistry, Kiel University, Kiel, Germany., Capriotti E; Department of Osteology and Biomechanics, Cell Biology of Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schweizer M; Morphology and Electron Microscopy, University Medical Center Hamburg-Eppendorf, Center for Molecular Neurobiology (ZMNH), Hamburg, Germany., Wagner L; Institute of Biochemistry, Kiel University, Kiel, Germany., Wienberg J; Institute of Biochemistry, Kiel University, Kiel, Germany., Hobohm L; Institute of Biochemistry, Kiel University, Kiel, Germany., Blume L; Institute of Biochemistry, Kiel University, Kiel, Germany.; Institute of Cellular and Integrative Physiology, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Qiao W; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Narimatsu Y; Faculty of Health Sciences, Centre for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Carette JE; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Clausen H; Faculty of Health Sciences, Centre for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, Rheinische Friedrich-Wilhelms-University of Bonn, Bonn, Germany., Braulke T; Department of Osteology and Biomechanics, Cell Biology of Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Jabs S; Institute of Clinical Molecular Biology, Kiel University and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. s.jabs@ikmb.uni-kiel.de., Voss M; Institute of Biochemistry, Kiel University, Kiel, Germany. mvoss@biochem.uni-kiel.de.
Publikováno v:
The EMBO journal [EMBO J] 2024 Dec; Vol. 43 (24), pp. 6264-6290. Date of Electronic Publication: 2024 Nov 25.
Autor:
Braulke T; Department of Osteology and Biomechanics, Cell Biology of Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Carette JE; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Palm W; German Cancer Research Center (DKFZ), Heidelberg, Germany. Electronic address: w.palm@dkfz-heidelberg.de.
Publikováno v:
Trends in cell biology [Trends Cell Biol] 2024 Mar; Vol. 34 (3), pp. 198-210. Date of Electronic Publication: 2023 Jul 18.
Publikováno v:
In Molecular and Cellular Endocrinology 2008 295(1):18-23
Autor:
Cathey, Sara S., Kudo, Mariko, Tiede, Stephan, Raas‐Rothschild, Annick, Braulke, Thomas, Beck, Michael, Taylor, Harold A., Canfield, William M., Leroy, Jules G., Neufeld, Elizabeth F., McKusick, Victor A.
Publikováno v:
American Journal of Medical Genetics. Part A; February 2008, Vol. 146 Issue: 4 p512-513, 2p
Autor:
Matos, L., Santos, J.I., Rocha, M., Coutinho, M.F., Gaspar, P., Voltolini Velho, R., Braulke, T., Prata, M.J., Alves, S.
Treatment strategies such enzyme-replacement therapy and substrate reduction, among others, are available for some Lysosomal Storage Diseases, yet still with some limitations. In recent years, the RNA molecule became one of the most promising targets
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::62b957880abeaeda2c8e921f414982bb
https://hdl.handle.net/10400.18/6791
https://hdl.handle.net/10400.18/6791
Autor:
Richards CM; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Jabs S; Institute of Clinical Molecular Biology, Christian-Albrechts-University and University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany., Qiao W; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Varanese LD; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Schweizer M; Department of Electron Microscopy, Center for Molecular Neurobiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mosen PR; Institute for Biochemistry and Molecular Biology, Medical Faculty, Rheinische Friedrich-Wilhelms-University of Bonn, Bonn, Germany., Riley NM; Department of Chemistry, Stanford University, Stanford, CA, USA., Klüssendorf M; Department of Osteology and Biomechanics, Cell Biology of Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zengel JR; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Flynn RA; Stem Cell Program, Boston Children's Hospital, Boston, MA, USA.; Stem Cell and Regenerative Biology Department, Harvard University, Cambridge, MA, USA., Rustagi A; Division of Infectious Disease and Geographic Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Widen JC; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Peters CE; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA., Ooi YS; Programme in Emerging Infectious Diseases, Duke-NUS Medical School, Singapore, Singapore., Xie X; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX, USA., Shi PY; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX, USA., Bartenschlager R; Department of Infectious Diseases, Molecular Virology, Heidelberg University, Heidelberg, Germany.; Division Virus-Associated Carcinogenesis, German Cancer Research Center (DKFZ), Heidelberg, Germany., Puschnik AS; Chan Zuckerberg Biohub, San Francisco, CA, USA., Bogyo M; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Bertozzi CR; Department of Chemistry, Stanford University, Stanford, CA, USA.; Howard Hughes Medical Institute, Stanford, CA, USA., Blish CA; Division of Infectious Disease and Geographic Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, Rheinische Friedrich-Wilhelms-University of Bonn, Bonn, Germany., Nagamine CM; Department of Comparative Medicine, Stanford University School of Medicine, Stanford, CA, USA., Braulke T; Department of Osteology and Biomechanics, Cell Biology of Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Carette JE; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA.
Publikováno v:
Science (New York, N.Y.) [Science] 2022 Oct 07; Vol. 378 (6615), pp. eabn5648. Date of Electronic Publication: 2022 Oct 07.
Autor:
Nagpal R; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Georgi G; Department of Orthodontics, University of Leipzig Medical Center, Leipzig, Germany., Knauth S; Department of Orthodontics, University of Leipzig Medical Center, Leipzig, Germany., Schmid-Herrmann C; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Muschol N; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Braulke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kahl-Nieke B; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Amling M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Koehne T; Department of Orthodontics, University of Leipzig Medical Center, Leipzig, Germany., Petersen J; Department of Orthodontics, University of Leipzig Medical Center, Leipzig, Germany.
Publikováno v:
Frontiers in physiology [Front Physiol] 2022 Sep 21; Vol. 13, pp. 998039. Date of Electronic Publication: 2022 Sep 21 (Print Publication: 2022).
Autor:
Di Lorenzo G; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Napoli, Italy., Westermann LM; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yorgan TA; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Stürznickel J; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ludwig NF; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Ammer LS; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Baranowsky A; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Trauma and Orthopedic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ahmadi S; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Pourbarkhordariesfandabadi E; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Breyer SR; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Pediatric Orthopedics, Children's Hospital Altona, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Board TN; The Centre for Hip Surgery, Wrightington, Wigan and Leigh NHS Trust, Appley Bridge, Wigan, UK., Foster A; Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Mercer J; Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Tylee K; Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Velho RV; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schweizer M; Center for Molecular Neurobiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Renné T; Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Braulke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Randon DN; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Sperb-Ludwig F; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., de Camargo Pinto LL; Children's Hospital Joana de Gusmão, Florianópolis, Brazil., Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, University of Campinas, Campinas, Brazil., Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, University of Campinas, Campinas, Brazil., Amling M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Muschol NM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schwartz IVD; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Rolvien T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Danyukova T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. s.pohl@uke.de.; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. s.pohl@uke.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2369-2377. Date of Electronic Publication: 2021 Aug 02.
Autor:
Soldati C; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Lopez-Fabuel I; Institute of Functional Biology and Genomics, CSIC, University of Salamanca, Salamanca, Spain.; Centro de Investigación Biomédica en Red sobre Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Institute of Biomedical Research of Salamanca, University Hospital of Salamanca, CSIC, University of Salamanca, Salamanca, Spain., Wanderlingh LG; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Garcia-Macia M; Institute of Functional Biology and Genomics, CSIC, University of Salamanca, Salamanca, Spain.; Centro de Investigación Biomédica en Red sobre Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Institute of Biomedical Research of Salamanca, University Hospital of Salamanca, CSIC, University of Salamanca, Salamanca, Spain., Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Esposito A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Napolitano G; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy., Guevara-Ferrer M; School of Healthcare Science, Manchester Metropolitan University, Manchester, UK., Scotto Rosato A; Faculty of Medicine, Walther Straub Institute of Pharmacology and Toxicology, Ludwig-Maximilians University, Munich, Germany., Krogsaeter EK; Faculty of Medicine, Walther Straub Institute of Pharmacology and Toxicology, Ludwig-Maximilians University, Munich, Germany., Paquet D; Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Grimm CM; Faculty of Medicine, Walther Straub Institute of Pharmacology and Toxicology, Ludwig-Maximilians University, Munich, Germany., Montefusco S; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Braulke T; Department Osteology & Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Storch S; University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mole SE; Medical Research Council Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, UK., De Matteis MA; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Napoli Federico II, Naples, Italy., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy.; Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Sampaio JL; Cellular and Chemical Biology Department, Institut Curie, U1143 INSERM, UMR3666 CNRS, PSL Research University, Paris, France., McKay T; School of Healthcare Science, Manchester Metropolitan University, Manchester, UK., Johannes L; Cellular and Chemical Biology Department, Institut Curie, U1143 INSERM, UMR3666 CNRS, PSL Research University, Paris, France., Bolaños JP; Institute of Functional Biology and Genomics, CSIC, University of Salamanca, Salamanca, Spain.; Centro de Investigación Biomédica en Red sobre Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Institute of Biomedical Research of Salamanca, University Hospital of Salamanca, CSIC, University of Salamanca, Salamanca, Spain., Medina DL; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2021 Oct 07; Vol. 13 (10), pp. e13742. Date of Electronic Publication: 2021 Aug 19.
Autor:
Abduljabbar, Maram H.1 (AUTHOR) maram.a@tu.edu.sa
Publikováno v:
Pharmaceuticals (14248247). Dec2024, Vol. 17 Issue 12, p1581. 17p.