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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia, Nuno; Potelle, Sven; Yildirim, Hamide; Duvet, Sandrine; Akula, Shyam K; Schulz, Celine; Wiame, Elsa; Gheldof, Alexander; O'Kane, Katherine; Lai, Abbe; Sermon, Karen; Proisy, Maïa; Loget, Philippe; Attié-Bitach, Tania; Quelin, Chloé; Fortuna, Ana Maria; Soares, Ana Rita; de Brouwer, Arjan P M; Van Schaftingen, Emile; Nassogne, Marie-Cécile; Walsh, Christopher A; Stouffs, Katrien; Jorge, Paula; Jansen, Anna C; Foulquier, François.
Affiliation
  • Maia N; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, Un
  • Potelle S; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium.
  • Yildirim H; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • Duvet S; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.
  • Akula SK; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, M
  • Schulz C; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.
  • Wiame E; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium.
  • Gheldof A; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • O'Kane K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, M
  • Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, M
  • Sermon K; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • Proisy M; CHU Brest, Radiology Department, Brest University, 29609 Brest Cedex, France.
  • Loget P; Department of Pathology, Rennes University Hospital, 35000 Rennes, France.
  • Attié-Bitach T; APHP, Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France; Université de Paris, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.
  • Quelin C; Clinical Genetics Department, Rennes University Hospital, 35000 Rennes, France.
  • Fortuna AM; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, Un
  • Soares AR; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal.
  • de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 Nijmegen, the Netherlands.
  • Van Schaftingen E; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium.
  • Nassogne MC; Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium; Institute Of NeuroScience, Clinical Neuroscience, UCLouvain, 1200 Brussels, Belgium.
  • Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, M
  • Stouffs K; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • Jorge P; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, Un
  • Jansen AC; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, 1090 Brussels, Belgium. Electronic address: anna.jansen@vub.be.
  • Foulquier F; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France. Electronic address: francois.foulquier@univ-lille.fr.
Am J Hum Genet ; 109(2): 345-360, 2022 02 03.
Article in En | MEDLINE | ID: mdl-35045343
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligosaccharides / Congenital Disorders of Glycosylation / Central Nervous System Cysts / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Alpha-Mannosidase / Polymicrogyria / Hamartoma / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Language: En Journal: Am J Hum Genet Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligosaccharides / Congenital Disorders of Glycosylation / Central Nervous System Cysts / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Alpha-Mannosidase / Polymicrogyria / Hamartoma / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Language: En Journal: Am J Hum Genet Year: 2022 Document type: Article