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MAN1B1 deficiency: an unexpected CDG-II

MAN1B1 deficiency: an unexpected CDG-II

http://www.wikidata.org/entity/Q35069214

about

Emerging novel concept of chaperone therapies for protein misfolding diseases A Golgi-localized mannosidase (MAN1B1) plays a non-enzymatic gatekeeper role in protein biosynthetic quality control.Golgi post-translational modifications and associated diseases.The intrinsic and extrinsic effects of N-linked glycans on glycoproteostasis.Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.ERManI (Endoplasmic Reticulum Class I α-Mannosidase) Is Required for HIV-1 Envelope Glycoprotein Degradation via Endoplasmic Reticulum-associated Protein Degradation Pathway Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Skin manifestations in CDG.Congenital disorders of glycosylation: new defects and still counting.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Immunological aspects of congenital disorders of glycosylation (CDG): a review.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Genetic disruption of multiple α1,2-mannosidases generates mammalian cells producing recombinant proteins with high-mannose-type N-glycans.Clinical glycomics for the diagnosis of congenital disorders of glycosylation.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

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MAN1B1 deficiency: an unexpected CDG-II

http://www.wikidata.org/entity/Q35069214

description

2013 nî lūn-bûn

@nan

2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

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2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

MAN1B1 deficiency: an unexpected CDG-II

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MAN1B1 deficiency: an unexpected CDG-II

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type

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MAN1B1 deficiency: an unexpected CDG-II

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MAN1B1 deficiency: an unexpected CDG-II

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MAN1B1 deficiency: an unexpected CDG-II

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MAN1B1 deficiency: an unexpected CDG-II

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JOURNAL.PGEN.1003989

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MAN1B1 deficiency: an unexpected CDG-II

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Ali Cansu

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Carla G Asteggiano

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Daisy Rymen

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Gert Matthijs

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Jaak Jaeken

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Luisa Sturiale

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Marie-Cécile Nassogne

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María B Millón

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Miguel Gonçalves-Rocha

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Peter Clayton

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P2860

Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis

Cloning and expression of a specific human alpha 1,2-mannosidase that trims Man9GlcNAc2 to Man8GlcNAc2 isomer B during N-glycan biosynthesis

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Glycoprotein biosynthesis in Saccharomyces cerevisiae. Isolation and characterization of the gene encoding a specific processing alpha-mannosidase.

The Saccharomyces cerevisiae processing alpha 1,2-mannosidase is localized in the endoplasmic reticulum, independently of known retrieval motifs.

Degradation of misfolded endoplasmic reticulum glycoproteins in Saccharomyces cerevisiae is determined by a specific oligosaccharide structure.

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx .

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis.

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10.1371/JOURNAL.PGEN.1003989

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12

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9

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Haluk Topaloglu

François Foulquier

Domenico Garozzo

Esmeralda G. Martins

Philippa B Mills

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2013-12-12T00:00:00Z

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