(Q24538789)

English

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

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scholarly article

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Europe PubMed Central

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10 November 2019

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497243%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

0 references

chondrodysplasia punctata

1 reference

based on heuristic

inferred from title

X-linked chondrodysplasia punctata

1 reference

based on heuristic

inferred from title

1

1 reference

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10 November 2019

Andrea Ballabio

5

1 reference

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10 November 2019

author name string

G Parenti

2

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10 November 2019

M d'Addio

3

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10 November 2019

G Andria

4

1 reference

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10 November 2019

G Meroni

6

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10 November 2019

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1 March 1998

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10 November 2019

American Journal of Human Genetics

1 reference

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10 November 2019

62

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10 November 2019

562-572

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10 November 2019

3

1 reference

Europe PubMed Central

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10 November 2019

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Cloning and expression of human steroid-sulfatase. Membrane topology, glycosylation, and subcellular distribution in BHK-21 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Cloning and expression of human arylsulfatase A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Structure of a human lysosomal sulfatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

A new method for predicting signal sequence cleavage sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

The evolutionary conservation of a novel protein modification, the conversion of cysteine to serinesemialdehyde in arylsulfatase from Volvox carteri

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

24 March 2017

Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

7 April 2017

Phase separation of integral membrane proteins in Triton X-114 solution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

7 April 2017

SR alpha promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

7 April 2017

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

The sulfatase gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

Maternal and fetal sequelae of anticoagulation during pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

Lectin-binding sites as markers of Golgi subcompartments: proximal-to-distal maturation of oligosaccharides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

27 September 2017

Beta-COP is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

30 May 2018

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376941

29 November 2018

Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/9497243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel 58-kDa protein associates with the Golgi apparatus and microtubules

1 reference

https://pubmed.ncbi.nlm.nih.gov/9497243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Luciferase reporter gene vectors for analysis of promoters and enhancers

1 reference

https://pubmed.ncbi.nlm.nih.gov/9497243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9497243

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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10 November 2019

release_kyw6x5yaozgvbby5mt423kbvry

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24 November 2022

based on heuristic

mapped directly with Wikidata item

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497243%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

Europe PubMed Central

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10 November 2019

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