(Q34266127)

1 August 2017

1 reference

title

Molecular pathology of NEU1 gene in sialidosis (English)

1 reference

1 August 2017

0 references

1 reference

15 March 2024

4

Marie-Thérèse Zabot

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Alexey V Pshezhetsky

6

object named as

Alexey V Pshezhetsky

1 reference

1 August 2017

2

Helena Poupetova

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14517945

15 March 2024

author name string

Volkan Seyrantepe

1

1 reference

1 August 2017

Roseline Froissart

3

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1 August 2017

Irène Maire

5

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1 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14517945

15 March 2024

publication date

1 November 2003

1 reference

full work available at URL

1 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.10268

1 reference

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.10268

15 March 2024

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15 March 2024

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1 August 2017

volume

22

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1 August 2017

issue

5

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1 August 2017

page(s)

343-352

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

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Neuraminidase deficiency presenting as non-immune hydrops fetalis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Cloning and characterization of a sialidase from the murine histocompatibility-2 complex: low levels of mRNA and a single amino acid mutation are responsible for reduced sialidase activity in mice carrying the Neu1a allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Ganglioside control over IL-4 priming and cytokine production in activated T cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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.10268

7 January 2021

Crystal structure of Vibrio cholerae neuraminidase reveals dual lectin-like domains in addition to the catalytic domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Mobilization of sialidase from intracellular stores to the surface of human neutrophils and its role in stimulated adhesion responses of these cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

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https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

The three domains of a bacterial sialidase: a beta-propeller, an immunoglobulin module and a galactose-binding jelly-roll

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Activation of T lymphocytes results in an increase in H-2-encoded neuraminidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Activated T-lymphocytes express class I molecules which are hyposialylated compared to other lymphocyte populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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.10268

7 January 2021

Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Identification of a sialidase encoded in the human major histocompatibility complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Immunological discrimination of intralysosomal, cytosolic, and two membrane sialidases present in rat tissues.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Multiple Forms of Mammalian Sialidase. Altered Expression in Carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Differential effect of various inhibitors on four types of rat sialidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Roles of beta-galactosidase of B lymphocytes and sialidase of T lymphocytes in inflammation-primed activation of macrophages

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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.10268

7 January 2021

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.10268

7 January 2021

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

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https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

The cherry-red spot-myoclonus syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Clinical variability of type II sialidosis by C808T mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Lysosomal sialidase deficiency: increased ganglioside content in autopsy tissues of a sialidosis patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Two genetically different MU-NANA neuraminidases in human leucocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Cloning, expression, and chromosomal mapping of a human ganglioside sialidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Site-directed mutagenesis of human membrane-associated ganglioside sialidase: identification of amino-acid residues contributing to substrate specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Vitamin D3-binding protein as a precursor for macrophage activating factor in the inflammation-primed macrophage activation cascade in rats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10268

7 January 2021

Helvetica paediatrica acta

13

32

391

Durand

1977

1 reference

15 March 2024

Identifiers

DOI

10.1002/HUMU.10268

1 reference

1 August 2017

1 reference