(Q40604011)

English

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression

scientific article published on January 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

Susan Pattison

1

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Michael Pankarican

2

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

C Anthony Rupar

3

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Frank L Graham

4

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Suleiman A Igdoura

5

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

publication date

1 January 2004

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

23

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Europe PubMed Central

PubMed publication ID

22 September 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

32-39

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Lysosomal protective protein/cathepsin A. Role of the "linker" domain in catalytic activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

21 January 2018

Structure of the lysosomal neuraminidase-beta-galactosidase-carboxypeptidase multienzymic complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

21 January 2018

Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

21 January 2018

Comparative enzymology, biochemistry and pathophysiology of human exo-alpha-sialidases (neuraminidases).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Lysosomal neuraminidase. Catalytic activation in insect cells is controlled by the protective protein/cathepsin A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Sialidase-like Asp-boxes: sequence-similar structures within different protein folds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of a bacterial sialidase (from Salmonella typhimurium LT2) shows the same fold as an influenza virus neuraminidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

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Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenovirus vectors for high-efficiency gene transfer into mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Human adenovirus vectors for gene transfer into mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenovirus vectors for human gene therapy

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystallization and preliminary X-ray studies of sialidase L from the leech Macrobdella decora

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and structural studies of Japanese patients with sialidosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

An enhanced system for construction of adenoviral vectors by the two-plasmid rescue method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-alpha-D-N-acetylneuraminate) substrate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Conserved sequences in bacterial and viral sialidases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10278

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10278

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

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