Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2 (Q35815887)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26488408%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26488408%20AND%20SRC:MED&resulttype=core&format=json

protein heterodimerization activity

27 February 2020

main subject

1 reference

1

1 reference

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27 February 2020

Maria Vittoria Cubellis

series ordinal

4

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27 February 2020

author name string

Maria Chiara Monti

series ordinal

2

1 reference

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27 February 2020

Valentina Citro

series ordinal

3

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27 February 2020

language of work or name

English

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publication date

21 October 2015

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27 February 2020

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27 February 2020

volume

10

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27 February 2020

page(s)

e0139882

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27 February 2020

issue

10

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Creative Commons Attribution 4.0 International

27 February 2020

copyright license

start time

21 October 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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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

27 July 2018

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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations

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

27 July 2018

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Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

27 July 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

27 July 2018

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

27 July 2018

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

27 July 2018

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Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells

27 July 2018

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

27 July 2018

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The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

27 July 2018

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Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.

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24 September 2018

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Limited proteolysis as a probe of conformational changes in aspartate aminotransferase from Sulfolobus solfataricus

24 September 2018

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Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

21 January 2018

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12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

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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

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

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12 December 2020

Congenital disorders of glycosylation

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12 December 2020

10.1371/JOURNAL.PONE.0139882

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DOI

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27 February 2020

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