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Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
Blommaert, Eline; Cherepanova, Natalia A; Staels, Frederik; Wilson, Matthew P; Gilmore, Reid; Schrijvers, Rik; Jaeken, Jaak; Foulquier, François; Matthijs, Gert.
Afiliação
  • Blommaert E; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000, Leuven, Belgium.
  • Cherepanova NA; Department of Psychiatry, University of Massachusetts Medical School, Shrewsburry, MA, 01545, USA.
  • Staels F; Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, 3000, Leuven, Belgium.
  • Wilson MP; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000, Leuven, Belgium.
  • Gilmore R; Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA, 01655, USA.
  • Schrijvers R; Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, 3000, Leuven, Belgium.
  • Jaeken J; Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
  • Foulquier F; CNRS, UMR 8576 - UGSF Unité de Glycobiologie Structurale Et Fonctionnelle, University of Lille, Villeneuve D'Ascq, 59000, Lille, France.
  • Matthijs G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000, Leuven, Belgium. gert.matthijs@uzleuven.be.
Hum Genet ; 141(7): 1279-1286, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35182234
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Cátions / Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X / Síndromes de Imunodeficiência / Transtornos Linfoproliferativos Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Cátions / Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X / Síndromes de Imunodeficiência / Transtornos Linfoproliferativos Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article