Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.

Autor: Westermann LM; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Fleischhauer L; Laboratory of Experimental Surgery and Regenerative Medicine, Clinic for General Trauma and Reconstructive Surgery, Ludwig-Maximilians University, 80336 Munich, Germany.; Center for Applied Tissue Engineering and Regenerative Medicine (Canter), University of Applied Sciences, 80533 Munich, Germany., Vogel J; Center for Applied Tissue Engineering and Regenerative Medicine (Canter), University of Applied Sciences, 80533 Munich, Germany., Jenei-Lanzl Z; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Orthopedic University Hospital Friedrichsheim gGmbH, 60528 Frankfurt/Main, Germany., Ludwig NF; Post-Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil., Schau L; RG Behavioral Biology, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Morellini F; RG Behavioral Biology, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Baranowsky A; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Yorgan TA; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Di Lorenzo G; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Schweizer M; Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., de Souza Pinheiro B; Department of Genetics, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil., Guarany NR; Occupational Therapy Faculty, Federal University of Pelotas, 96010-610 Pelotas, Brazil., Sperb-Ludwig F; Department of Genetics, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil., Visioli F; Pathology Department, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil., Oliveira Silva T; Post-Graduate Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil., Soul J; Skeletal Research Group, Biosciences Institute, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Hendrickx G; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Wiegert JS; RG Synaptic Wiring and Information Processing, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Schwartz IVD; Department of Genetics, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil.; Post-Graduate Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil., Clausen-Schaumann H; Center for Applied Tissue Engineering and Regenerative Medicine (Canter), University of Applied Sciences, 80533 Munich, Germany., Zaucke F; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Orthopedic University Hospital Friedrichsheim gGmbH, 60528 Frankfurt/Main, Germany., Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Pohl S; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany s.pohl@uke.de t.danyukova@uke.de., Danyukova T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany s.pohl@uke.de t.danyukova@uke.de.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2020 Nov 18; Vol. 13 (11). Date of Electronic Publication: 2020 Nov 18.

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Autor: Velho RV; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; Postgraduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil., Ludwig NF; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; BRAIN Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil., Alegra T; Postgraduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil., Sperb-Ludwig F; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; BRAIN Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil., Guarany NR; Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil., Matte U; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; Postgraduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil., Schwartz IV; Postgraduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil.; BRAIN Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil.

Publikováno v: Journal of human genetics [J Hum Genet] 2016 Jun; Vol. 61 (6), pp. 555-60. Date of Electronic Publication: 2016 Mar 03.

Functional capacity evaluation of patients with mucopolysaccharidosis.

Autor: Guarany NR; Post Graduation Program in Child and Adolescent Health, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Schwartz IV, Guarany FC, Giugliani R

Publikováno v: Journal of pediatric rehabilitation medicine [J Pediatr Rehabil Med] 2012; Vol. 5 (1), pp. 37-46.