Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.

Autor: Kentache T; Metabolic Research Group, de Duve Institute & WELRI, Université Catholique de Louvain, Brussels, Belgium., Althoff CR; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France., Caligiore F; Metabolic Research Group, de Duve Institute & WELRI, Université Catholique de Louvain, Brussels, Belgium., Souche E; Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium., Schulz C; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France., Graff J; Metabolic Research Group, de Duve Institute & WELRI, Université Catholique de Louvain, Brussels, Belgium., Pieters E; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium., Stanley P; Department of Cell Biology, Albert Einstein College of Medicine, New York, New York., Contessa JN; Department of Therapeutic Radiology, Yale School of Medicine, New Haven, Connecticut; Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut., Van Schaftingen E; Metabolic Research Group, de Duve Institute & WELRI, Université Catholique de Louvain, Brussels, Belgium., Matthijs G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium., Foulquier F; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France., Bommer GT; Metabolic Research Group, de Duve Institute & WELRI, Université Catholique de Louvain, Brussels, Belgium. Electronic address: guido.bommer@uclouvain.be., Wilson MP; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address: matthew.wilson@kuleuven.be.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2024 Oct 10; Vol. 300 (12), pp. 107875. Date of Electronic Publication: 2024 Oct 10.

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Autor: Wilson MP; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium., Kentache T; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium., Althoff CR; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., Schulz C; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., de Bettignies G; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., Mateu Cabrera G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium., Cimbalistiene L; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Yoon G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada., Costain G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Vuillaumier-Barrot S; AP-HP, Biochimie Métabolique et Cellulaire and Département de Génétique, Hôpital Bichat-Claude Bernard, and Université de Paris, Faculté de Médecine Xavier Bichat, INSERM U1149, CRI, Paris, France., Cheillan D; Service Biochimie et Biologie Moléculaire - Hospices Civils de Lyon; Laboratoire Carmen - Inserm U1060, INRAE UMR1397, Université Claude Bernard Lyon 1, Lyon, France., Rymen D; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium., Rychtarova L; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czechia., Hansikova H; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czechia., Bury M; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium., Dewulf JP; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium., Caligiore F; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium., Jaeken J; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium., Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, France., Van Schaftingen E; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium. Electronic address: emile.vanschaftingen@uclouvain.be., Matthijs G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address: gert.matthijs@kuleuven.be., Foulquier F; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France. Electronic address: francois.foulquier@univ-lille.fr., Bommer GT; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium. Electronic address: guido.bommer@uclouvain.be.

Publikováno v: Cell [Cell] 2024 Jul 11; Vol. 187 (14), pp. 3585-3601.e22. Date of Electronic Publication: 2024 May 30.

[Research in the past].

Autor: Boresntein MS, Althoff CR

Publikováno v: Revista brasileira de enfermagem [Rev Bras Enferm] 1995 Apr-Jun; Vol. 48 (2), pp. 144-9.