A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

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CDG Therapies: From Bench to Bedside.The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

P2860

Q52558429-EC0BA8A2-A6CE-4F93-8060-A60FEFC5CC00 Q57976794-942660C4-64FB-4C2B-9556-EA598B7634F2

P2860

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

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http://www.wikidata.org/entity/Q47121667

description

2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

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2017年學術文章

@zh-hant

name

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@en

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@nl

type

Item

label

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@en

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@nl

prefLabel

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@en

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@nl

P1476

A mutant of phosphomannomutase ...... ions for the disease PMM2-CDG.

@en

P2093

Chiara Cimmaruta

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Gaetano Viscido

http://www.w3.org/2001/XMLSchema#string

Ludovica Liguori

http://www.w3.org/2001/XMLSchema#string

Valentina Citro

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P2860

The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

Inference of macromolecular assemblies from crystalline state

UCSF Chimera--a visualization system for exploratory research and analysis

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

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e0189629

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scholarly article

P356

10.1371/JOURNAL.PONE.0189629

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English

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P478

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Maria Vittoria Cubellis

Giuseppina Andreotti

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2017-12-19T00:00:00Z

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P698

29261720

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P932

5736207

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A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

about

P2860

P2860

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932