Mostrar el registro sencillo del ítem
dc.contributor.author
Rymen, Daisy
dc.contributor.author
Peanne, Romain
dc.contributor.author
Millón, María Beatriz
dc.contributor.author
Race, Valérie
dc.contributor.author
Sturiale, Luisa
dc.contributor.author
Garozzo, Domenico
dc.contributor.author
Mills, Philippa
dc.contributor.author
Clayton, Peter
dc.contributor.author
Asteggiano, Carla Gabriela
dc.contributor.author
Quelhas, Dulce
dc.contributor.author
Cansu, Ali
dc.contributor.author
Martins, Esmeralda
dc.contributor.author
Nassogne, Marie-Cécile
dc.contributor.author
Gonçalves-Rocha, Miguel
dc.contributor.author
Topaloglu, Haluk
dc.contributor.author
Jaeken, Jaak
dc.contributor.author
Foulquier, François
dc.contributor.author
Matthijs, Gert
dc.date.available
2015-06-11T14:20:13Z
dc.date.issued
2013-12-12
dc.identifier.citation
Rymen, Daisy; Peanne, Romain; Millón, María Beatriz; Race, Valérie; Sturiale, Luisa; et al.;MAN1B1 Deficiency: An Unexpected CDG-II; Public Library Science; Plos Genetics; 9; 12; 12-12-2013; e1003989
dc.identifier.issn
1553-7390
dc.identifier.uri
http://hdl.handle.net/11336/668
dc.description.abstract
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDGII patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation and truncal obesity. Generally, MAN1B1 is believed to be an ER resident alpha-1,2-mannosidase acting as a key factor in glycoprotein quality control by targeting misfolded proteins for ER-associated degradation (ERAD). However, recent studies indicated a Golgi localization of the endogenous MAN1B1, suggesting a more complex role for MAN1B1 in quality control. We were able to confirm that MAN1B1 is indeed localized to the Golgi complex instead of the ER. Furthermore, we observed an altered Golgi morphology in all patients? cells, with marked dilatation and fragmentation. We hypothesize that part of the phenotype is associated to this Golgi disruption. In conclusion, we linked mutations in MAN1B1 to a Golgi glycosylation disorder. Additionally, our results support the recent findings on MAN1B1 localization. However, more work is needed to pinpoint the exact function of MAN1B1 in glycoprotein quality control, and to understand the pathophysiology of its deficiency.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Public Library Science
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Glycosylation
dc.subject
Congenital Disorders of Glycosylation
dc.subject
Man1b1 Gene
dc.subject
Cdg Type Ii
dc.subject.classification
Ciencias Naturales y Exactas
dc.subject.classification
Ciencias Biológicas
dc.subject.classification
Bioquímica y Biología Molecular (ídem 3.1.10)
dc.title
MAN1B1 Deficiency: An Unexpected CDG-II
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2016-03-30 10:35:44.97925-03
dc.journal.volume
9
dc.journal.number
12
dc.journal.pagination
e1003989
dc.journal.pais
Estados Unidos
dc.journal.ciudad
San Francisco
dc.description.fil
Fil: Rymen, Daisy. Center for Human Genetics. Katholikie Universiteit Leuven; Bélgica; University Hospital Gasthuisberg . Center for Metabolic Diseases; Bélgica;
dc.description.fil
Fil: Peanne, Romain. Center for Human Genetics. Katholikie Universiteit Leuven; Bélgica;
dc.description.fil
Fil: Millón, María Beatriz. Universidad Nacional de Cordoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina;
dc.description.fil
Fil: Race, Valérie. Center for Human Genetics. Katholikie Universiteit Leuven; Bélgica;
dc.description.fil
Fil: Sturiale, Luisa. Institute of Chemistry and Technology of Polymers, CNR, Italia;
dc.description.fil
Fil: Garozzo, Domenico. Institute of Chemistry and Technology of Polymers, CNR, Italia;
dc.description.fil
Fil: Mills, Philippa. Hospital for Children NHS Trust. Clinical & Molecular Genetics Unit. Institute of Child Health; United Kingdom;
dc.description.fil
Fil: Clayton, Peter. Hospital for Children NHS Trust. Clinical & Molecular Genetics Unit. Institute of Child Health; United Kingdom;
dc.description.fil
Fil: Asteggiano, Carla Gabriela. Universidad Nacional de Cordoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina;
dc.description.fil
Fil: Quelhas, Dulce. Centro de Genética Medica - Dr. Jacinto Magalhaes - INSA. Unidad de Genética Médica. Departamento de Genética Humana; Portugal;
dc.description.fil
Fil: Cansu, Ali. Gazi University Faculty of Medicine, Department of Paediatric Neurology; Turkey;
dc.description.fil
Fil: Martins, Esmeralda. Hospital de Criancas Maria Pia. Unidade de Doencas Metabólicas; Portugal;
dc.description.fil
Fil: Nassogne, Marie-Cécile. Cliniques Universitaires Saint-Luc. Universite Catholique de Louvain; Bélgica;
dc.description.fil
Fil: Gonçalves-Rocha, Miguel. Centro de Genética Medica - Dr. Jacinto Magalhaes - INSA. Unidad de Genética Médica. Departamento de Genética Humana; Portugal;
dc.description.fil
Fil: Topaloglu, Haluk. Hacettepe University Children’s Hospital . Department of Child Neurology. AnkarA: Turquía;
dc.description.fil
Fil: Jaeken, Jaak. University Hospital Gasthuisberg . Center for Metabolic Diseases; Bélgica;
dc.description.fil
Fil: Foulquier, François. University of Lille 1. Structural and Functional Glycobiology Unit.; Francia;
dc.description.fil
Fil: Matthijs, Gert. Center for Human Genetics. Katholikie Universiteit Leuven; Bélgica;
dc.journal.title
Plos Genetics
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1371/ journal.pgen.1003989
Archivos asociados