(Q47718417)

5 February 2018

title

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase (English)

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5 February 2018

author

Jana Ledvinová

8

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5 February 2018

Agnieszka Ługowska

9

object named as

Agnieszka Lugowska

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5 February 2018

Doris Hofer

1

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5 February 2018

Karl Paul

2

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5 February 2018

Katrin Fantur

3

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5 February 2018

Michael Beck

4

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5 February 2018

Friederike Bürger

5

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5 February 2018

Catherine Caillaud

6

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5 February 2018

Ksenija Fumic

7

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5 February 2018

Helen Michelakakis

10

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5 February 2018

Briguita Radeva

11

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5 February 2018

Uma Ramaswami

12

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5 February 2018

Barbara Plecko

13

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5 February 2018

Eduard Paschke

14

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5 February 2018

publication date

1 August 2009

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5 February 2018

published in

Human Mutation

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5 February 2018

volume

30

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5 February 2018

issue

8

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5 February 2018

page(s)

1214-1221

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5 February 2018

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

Kinetic mechanism and characterization of human beta-galactosidase precursor secreted by permanently transfected Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Clinical and molecular analysis of a Japanese boy with Morquio B disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Fibroblast screening for chaperone therapy in beta-galactosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Identification of Glu-268 as the catalytic nucleophile of human lysosomal beta-galactosidase precursor by mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Morquio disease, type B: activation of GM1-beta-galactosidase by GM1-activator protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21031

7 January 2021

Identifiers

DOI

10.1002/HUMU.21031

1 reference

5 February 2018

1 reference

5 February 2018