(Q28235280)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15714521%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

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

1 reference

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8 January 2020

5

1 reference

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8 January 2020

Amelia Morrone

12

1 reference

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8 January 2020

author name string

Anna Caciotti

1

1 reference

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8 January 2020

Maria Alice Donati

2

1 reference

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8 January 2020

Avihu Boneh

3

1 reference

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8 January 2020

Alessandra d'Azzo

4

1 reference

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8 January 2020

Rossella Parini

6

1 reference

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8 January 2020

Danielas Antuzzi

7

1 reference

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8 January 2020

Tiziana Bardelli

8

1 reference

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8 January 2020

Daniele Nosi

9

1 reference

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8 January 2020

Virginia Kimonis

10

1 reference

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8 January 2020

Enrico Zammarchi

11

1 reference

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8 January 2020

language of work or name

English

0 references

publication date

1 March 2005

1 reference

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8 January 2020

1 reference

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8 January 2020

volume

25

1 reference

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8 January 2020

issue

3

1 reference

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8 January 2020

page(s)

285-292

1 reference

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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

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

7 January 2021

A common mutation site in the beta-galactosidase gene originates in Puerto Rico

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

7 January 2021

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

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.20147

7 January 2021

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

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.20147

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.20147

7 January 2021

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

7 January 2021

GM1-gangliosidosis: abnormalities in biosynthesis and early processing of beta-galactosidase in fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

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.20147

7 January 2021

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20147

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.20147

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.20147

7 January 2021

Identifiers

DOI

10.1002/HUMU.20147

2 references

Consolidated OpenCitations Corpus – April 2017

5039951

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15714521%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

5039951

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

5039951