From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.
about
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationCrystal structure and biochemical characterization of the transmembrane PAP2 type phosphatidylglycerol phosphate phosphatase from Bacillus subtilis.Deciphering the metabolism of undecaprenyl-phosphate: the bacterial cell-wall unit carrier at the membrane frontierGenetic defects in dolichol metabolism.At the membrane frontier: a prospectus on the remarkable evolutionary conservation of polyprenols and polyprenyl-phosphates.In vitro and in vivo downregulation of the ATP binding cassette transporter B1 by the HMG-CoA reductase inhibitor simvastatinUnderstanding human glycosylation disorders: biochemistry leads the charge.From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.Regulation of dolichol-linked glycosylation.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Congenital disorders of glycosylation and intellectual disability.Plant polyisoprenoids and control of cholesterol level.Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.Lipid sugar carriers at the extremes: The phosphodolichols Archaea use in N-glycosylation.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.A theoretical estimate for nucleotide sugar demand towards Chinese Hamster Ovary cellular glycosylation.Early evolution of polyisoprenol biosynthesis and the origin of cell walls.A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Synthesis of Dolichyl-phosphateDifferential roles of the mevalonate pathway in the development and survival of mouse Purkinje cells in culture.Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.Neuromelanin organelles are specialized autolysosomes that accumulate undegraded proteins and lipids in aging human brain and are likely involved in Parkinson's disease.
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P2860
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 08 March 2011
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
From glycosylation disorders t ...... w class of metabolic diseases.
@en
From glycosylation disorders t ...... w class of metabolic diseases.
@nl
type
label
From glycosylation disorders t ...... w class of metabolic diseases.
@en
From glycosylation disorders t ...... w class of metabolic diseases.
@nl
prefLabel
From glycosylation disorders t ...... w class of metabolic diseases.
@en
From glycosylation disorders t ...... w class of metabolic diseases.
@nl
P2860
P921
P1476
From glycosylation disorders t ...... w class of metabolic diseases.
@en
P2093
Dirk J Lefeber
P2860
P2888
P304
P356
10.1007/S10545-011-9301-0
P577
2011-03-08T00:00:00Z
2011-08-01T00:00:00Z