The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. (Q50444478)

14 March 2018

title

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

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14 March 2018

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Patricia Yuste-Checa

1

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14 March 2018

Alejandra Gámez

2

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14 March 2018

Sandra Brasil

3

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14 March 2018

Lourdes R Desviat

4

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14 March 2018

Magdalena Ugarte

5

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14 March 2018

Celia Pérez-Cerdá

6

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14 March 2018

Belén Pérez

7

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14 March 2018

publication date

25 May 2015

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14 March 2018

published in

Human Mutation

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14 March 2018

volume

36

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14 March 2018

page(s)

851-860

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14 March 2018

issue

9

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14 March 2018

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

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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

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7 January 2021

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

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7 January 2021

Underdiagnosis of mild congenital disorders of glycosylation type Ia

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7 January 2021

Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy

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7 January 2021

A new insight into PMM2 mutations in the French population

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7 January 2021

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22817

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14 March 2018

PubMed ID

26014514

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14 March 2018