Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder. (Q30607614)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25324542%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder (English)

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21 February 2020

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5

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21 February 2020

Giuseppina Andreotti

1

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21 February 2020

Maria Vittoria Cubellis

6

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21 February 2020

author name string

Israel Cabeza de Vaca

2

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21 February 2020

Angelita Poziello

3

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21 February 2020

Maria Chiara Monti

4

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21 February 2020

language of work or name

English

0 references

publication date

16 October 2014

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21 February 2020

number of pages

11

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Journal of Biological Chemistry

inferred from page(s)

published in

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21 February 2020

volume

289

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21 February 2020

page(s)

34900-34910

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21 February 2020

issue

50

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PELE: Protein Energy Landscape Exploration. A Novel Monte Carlo Based Technique.

21 February 2020

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Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

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High-resolution structure of an atypical α-phosphoglucomutase related to eukaryotic phosphomannomutases

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Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts

20 June 2018

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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

20 June 2018

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The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

20 June 2018

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Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

20 June 2018

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The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development

20 June 2018

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

20 June 2018

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20 June 2018

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Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts

20 June 2018

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20 June 2018

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Exploring protein native states and large-scale conformational changes with a modified generalized born model

20 June 2018

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Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)

20 June 2018

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Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

20 June 2018

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Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

20 June 2018

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Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

20 June 2018

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20 June 2018

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20 June 2018

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Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

20 June 2018

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https://api.crossref.org/works/10.1074%2FJBC.M114.586362

Structure of Leishmania mexicana Phosphomannomutase Highlights Similarities with Human Isoforms

21 January 2018

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Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

21 January 2018

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Identification of functional arginine residues in ribonuclease A and lysozyme

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12 December 2020

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

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12 December 2020

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

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12 December 2020

A new insight into PMM2 mutations in the French population

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12 December 2020

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

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12 December 2020

Identifiers

DOI

10.1074/JBC.M114.586362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25324542%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

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21 February 2020

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