Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression

Autor: Broeders, M., van Rooij, Jgj, Oussoren, E., van Gestel, Tjm, Smith, Ca, Kimber, Sj, Verdijk, Rm, Wagenmakers, Maem, van den Hout, Jmp, van der Ploeg, At, Narcisi, R., Pijnappel, Wwmp

Publikováno v: Frontiers in Bioengineering and Biotechnology, 10:949063. Frontiers Media S.A.

Mucopolysaccharidosis type VI (MPS VI) is a metabolic disorder caused by disease-associated variants in the Arylsulfatase B (ARSB) gene, resulting in ARSB enzyme deficiency, lysosomal glycosaminoglycan accumulation, and cartilage and bone pathology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c126ab3ae5762f8e0e5df626082e250
https://pubmed.ncbi.nlm.nih.gov/36561048

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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Autor: Parenti G; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands. parenti@unina.it.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, Naples, Italy. parenti@unina.it.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy. parenti@unina.it.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy. parenti@unina.it., Fecarotta S; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy., Alagia M; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy., Attaianese F; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy., Verde A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy., Tarallo A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, Naples, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy., Gragnaniello V; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy., Ziagaki A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Endocrinology and Metabolism, Center of Excellence for Rare Metabolic Diseases in Adults, Charite-Universitätsmedizin Berlin, Berlin, Germany., Guimaraes MJ; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Pneumology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal., Aguiar P; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Clinica Universitaria de Medicina I, Universidade de Lisboa, Lisbon, Portugal., Hahn A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Child Neurology, Justus-Liebig University, Giessen, Germany., Azevedo O; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Cardiology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal., Donati MA; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy., Kiec-Wilk B; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Unit of Rare Metabolic Diseases, Jagiellonian University Medical College, Kraków, Poland.; The John Paul II Specjalist Hospital in Kraków, Kraków, Poland., Scarpa M; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Centro Coordinamento Regionale Malattie Rare, Azienda Sanitaria Universitaria del Friuli Centrale, Udine, Italy., van der Beek NAME; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center, Rotterdam, Netherlands., Del Toro Riera M; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Metabolic Unit, Department of Pediatric Neurology, Hospital Universitario Vall d'Hebron Barcelona, Barcelona, Spain., Germain DP; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Division of Medical Genetics, University of Versailles, Montigny, France., Huidekoper H; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van den Hout JMP; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van der Ploeg AT; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl.; Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center, Rotterdam, Netherlands. a.vanderploeg@erasmusmc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 01; Vol. 19 (1), pp. 408. Date of Electronic Publication: 2024 Nov 01.

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Autor: Schoser B; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Beek NAME; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Broomfield A; Metabolic Department, Great Ormond Street Hospital, London, UK., Brusse E; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Diaz-Manera J; John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK., Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany., Hundsberger T; Department of Neurology, Cantonal Hospital St Gallen, St Gallen, Switzerland., Kornblum C; Neuromuscular Diseases Section, Department of Neurology, University Hospital Bonn, Bonn, Germany., Kruijshaar M; Center for Lysosomal and Metabolic Diseases Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Laforet P; Neurology Department, Raymond Poincaré Hospital, Nord-Est-Ile-de-France Neuromuscular Reference Center, Garches, APHP, Paris, France.; FHU PHENIX, Université Versailles Saint Quentin en Yvelines, Paris-Saclay University, Paris, France., Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany., Mongini T; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy., Orlikowski D; Clinical Investigation Center 1429 APHP/INSERM, UMR 1179, Hôpital Raymond Poincaré, Université de Versailles Saint Quentin/Paris Saclay, FHU PHENIX, Paris, France., Parenti G; Department of Translational Medicine, Federico II University, Naples, Italy., Pijnappel WWMP; Department of Clinical Genetics, Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Roberts M; Manchester Centre for Clinical Neurosciences, Manchester, UK., Scherer T; Division of Endocrinology, Innere III, Medical University of Vienna, Vienna, Austria., Toscano A; ERN-NMD Center of Messina for Rare Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Doorn PA; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wenninger S; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Sep; Vol. 31 (9), pp. e16383. Date of Electronic Publication: 2024 Jun 14.

Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges.

Autor: Bayoumy S; Neurochemistry Laboratory, Department of Laboratory Medicine, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands., Verberk IMW; Neurochemistry Laboratory, Department of Laboratory Medicine, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands., Vermunt L; Neurochemistry Laboratory, Department of Laboratory Medicine, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands., Willemse E; Neurochemistry Laboratory, Department of Laboratory Medicine, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands., den Dulk B; Neurochemistry Laboratory, Department of Laboratory Medicine, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands., van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus Medical Center, Rotterdam, The Netherlands., Pajkrt D; Organovir Labs, Department of Pediatric Infectious Diseases, Amsterdam University Medical Centers Location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Nitz E; Department of Neuropediatrics, Medizinische Fakultät, Technische Universität Dresden, Dresden, Germany., van den Hout JMP; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus Medical Center, Rotterdam, The Netherlands., van der Post J; Organovir Labs, Department of Pediatric Infectious Diseases, Amsterdam University Medical Centers Location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands., Beerepoot S; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Groen EJN; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, The Netherlands., Tüngler V; Department of Neuropediatrics, Medizinische Fakultät, Technische Universität Dresden, Dresden, Germany.; University Center for Rare Diseases, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Teunissen CE; Neurochemistry Laboratory, Department of Laboratory Medicine, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

Publikováno v: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2024 Jan 15; Vol. 62 (7), pp. 1252-1265. Date of Electronic Publication: 2024 Jan 15 (Print Publication: 2024).