A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

被引：0
作者：
S. Sabry
S. Vuillaumier-Barrot
E. Mintet
M. Fasseu
V. Valayannopoulos
D. Héron
N. Dorison
C. Mignot
N. Seta
I. Chantret
T. Dupré
S. E. H. Moore
机构：
[1] Faculté de Médecine Xavier Bichat,INSERM U1149
[2] Université Denis Diderot,Biochemical Genetics Department, Human Genetics Division
[3] Paris 7,Département de Pédiatrie
[4] Université Pierre et Marie Curie,Département de Génétique & Centre de Référence Déficiences Intellectuelles de Causes Rares
[5] Paris 6,Neuropédiatrie
[6] National Research Center NRC,undefined
[7] AP-HP,undefined
[8] Hôpital Bichat-Claude Bernard,undefined
[9] Biochimie,undefined
[10] AP-HP,undefined
[11] Hôpital Necker-Enfants Malades,undefined
[12] Hôpital Pitié Salpétrière,undefined
[13] Groupe de Recherche Clinique « Déficience Intellectuelle et Autisme » UPMC,undefined
[14] Hôpital Trousseau,undefined
[15] Université Paris Descartes,undefined
来源：
Orphanet Journal of Rare Diseases | / 11卷
关键词：
Protein N-glycosylation; Dolichol linked oligosaccharide; Retinitis pigmentosa; Endoplasmic reticulum;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 264 条
[1]  
Jaeken J(2013)Congenital disorders of glycosylation Handb Clin Neurol 113 1737-43
[2]  
Aebi M(2001)Congenital disorders of glycosylation: genetic model systems lead the way Trends Cell Biol 11 136-41
[3]  
Hennet T(1999)The dolichol pathway of N-linked glycosylation Biochim Biophys Acta 1426 239-57
[4]  
Burda P(2011)Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation Embo J 30 2490-500
[5]  
Aebi M(2010)SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder Cell 142 203-17
[6]  
Harrison KD(2007)A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy Am J Hum Genet 80 433-40
[7]  
Park EJ(2013)Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation Mol Genet Metab 110 484-9
[8]  
Gao N(2012)Life with too much polyprenol: polyprenol reductase deficiency Mol Genet Metab 105 642-51
[9]  
Kuo A(2012)SRD5A3-CDG: a patient with a novel mutation Eur J Paediatr Neurol 16 554-6
[10]  
Rush JS(2014)Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation Cell Metab 20 448-57
12345678910