Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex (Q33940580)

30 July 2017

Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex (English)

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30 July 2017

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Lukong KE

1

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30 July 2017

Landry K

2

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30 July 2017

Elsliger MA

3

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30 July 2017

Chang Y

4

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30 July 2017

Lefrancois S

5

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30 July 2017

Morales CR

6

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30 July 2017

Pshezhetsky AV

7

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30 July 2017

language of work or name

English

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publication date

20 February 2001

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Journal of Biological Chemistry

30 July 2017

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30 July 2017

276

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30 July 2017

20

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30 July 2017

17286-17290

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Disorders of glycoprotein degradation

30 July 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

The cherry-red spot-myoclonus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Identification of a sialidase encoded in the human major histocompatibility complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Generalized gangliosidosis: beta-galactosidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Two species of lysosomal organelles in cultured human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Structure of the influenza virus glycoprotein antigen neuraminidase at 2.9 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Cherry-red spot myoclonus syndrome (type I sialidosis).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Cherry-Red Spot-Myoclonus Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

A severe infantile sialidosis: clinical, biochemical, and microscopic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Neuraminidase deficiency presenting as non-immune hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

Continuous spectrophotometric assay of human lysosomal cathepsin A/protective protein in normal and galactosialidosis cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M100460200

21 January 2018

Identifiers

DOI

10.1074/JBC.M100460200

1 reference

30 July 2017

1 reference