(Q37671844)

21 August 2017

Functional characterization of wild-type and mutant human sialin (English)

1 reference

21 August 2017

Pierre Morin

1 reference

21 August 2017

Corinne Sagné

series ordinal

1 reference

21 August 2017

Bruno Gasnier

series ordinal

1 reference

21 August 2017

language of work or name

English

0 references

publication date

28 October 2004

1 reference

21 August 2017

1 reference

21 August 2017

1 reference

21 August 2017

1 reference

21 August 2017

4560-4570

1 reference

describes a project that uses

21 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC533050/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Sialin expression in the CNS implicates extralysosomal function in neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Organic anion transport is the primary function of the SLC17/type I phosphate transporter family

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Signals for sorting of transmembrane proteins to endosomes and lysosomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Siglecs: sialic-acid-binding immunoglobulin-like lectins in cell-cell interactions and signalling.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Selectins: critical mediators of leukocyte recruitment

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Multiple functions of the myelin-associated glycoprotein MAG (siglec-4a) in formation and maintenance of myelin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Neuropathology of Salla disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

The myelin-associated glycoprotein is enriched in multivesicular bodies and periaxonal membranes of actively myelinating oligodendrocytes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Identification of an axonal determinant in the C-terminus of the sodium channel Na(v)1.2.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Cell biology of polysialic acid

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Brain involvement in Salla disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=533050

Enhanced binding of the neural siglecs, myelin-associated glycoprotein and Schwann cell myelin protein, to Chol-1 (alpha-series) gangliosides and novel sulfated Chol-1 analogs

1 September 2018

1 reference

12 December 2020

Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides

1 reference

12 December 2020

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease

1 reference

12 December 2020

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder

1 reference

12 December 2020

Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter

1 reference

12 December 2020

Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease

1 reference

12 December 2020

Identifiers

DOI

10.1038/SJ.EMBOJ.7600464

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

15510212

1 reference