A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy - Test2 - elhamkhani - TriplyDB

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

http://www.wikidata.org/entity/Q24680115

about

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation TURAN and EVAN mediate pollen tube reception in Arabidopsis Synergids through protein glycosylation Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Dolichol biosynthesis and its effects on the unfolded protein response and abiotic stress resistance in Arabidopsis.A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation.Insights into complexity of congenital disorders of glycosylation.A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.Neurology of inherited glycosylation disorders.Genetic defects in dolichol metabolism.At the membrane frontier: a prospectus on the remarkable evolutionary conservation of polyprenols and polyprenyl-phosphates.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Congenital protein hypoglycosylation diseases.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity Glycosylation diseases: quo vadis?Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Recognition and diagnosis of neuro-ichthyotic syndromes.Regulation of dolichol-linked glycosylation.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Congenital disorders of glycosylation and intellectual disability.Plant polyisoprenoids and control of cholesterol level.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.Congenital disorders of glycosylation: other causes of ichthyosis A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Defective DOLK causes DOLK-CDG (CDG-1m)Ethanol-induced impairment in the biosynthesis of N-linked glycosylation.Recycling of dolichyl monophosphate to the cytoplasmic leaflet of the endoplasmic reticulum after the cleavage of dolichyl pyrophosphate on the lumenal monolayer.Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.Defective DOLK does not phosphorylate DCHOL DOLK phosphorylates DCHOL to DOLP 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.

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P2860

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

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description

2007 nî lūn-bûn

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2007 թուականի Մարտին հրատարակուած գիտական յօդուած

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2007 թվականի մարտին հրատարակված գիտական հոդված

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Anna Reith

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Anne Erlekotte

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Christian Kranz

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Christina Sohlbach

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Christoph Jungeblut

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Jonas Denecke

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Sonja Reichel

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P2860

Expression and characterization of a human cDNA ...

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

Sec59 encodes a membrane protein required for core glycosylation in Saccharomyces cerevisiae

Saccharomyces cerevisiae sec59 cells are deficient in dolichol kinase activity

The CWH8 gene encodes a dolichyl pyrophosphate phosphatase with a luminally oriented active site in the endoplasmic reticulum of Saccharomyces cerevisiae.

The ALG10 locus of Saccharomyces cerevisiae encodes the alpha-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation.

Assembly of asparagine-linked oligosaccharides

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

Enzymatic phosphorylation of dolichol in central nervous tissue

A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

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10.1086/512130

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