(Q30496353)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

6

1 reference

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9 February 2020

Fanny Pilot-Storck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jean-Jacques Panthier

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Stéphane Blot

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Laurent Tiret

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

Geneviève Aubin-Houzelstein

9 February 2020

18

object named as

Geneviève Aubin-Houzelstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Marie Abitbol

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jean-Laurent Thibaud

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Natasha J Olby

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christophe Hitte

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jean-Philippe Puech

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Benoit Hédan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Stéphane Dréano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Sandra Brahimi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Delphine Delattre

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Catherine André

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Françoise Gray

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Françoise Delisle

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Catherine Caillaud

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Florence Bernex

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

2 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

14775-14780

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

Pathophysiology of neuropathic lysosomal storage disorders

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Development of a functional bioassay for arylsulfatase B using the natural substrates of the enzyme

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Insulin-like growth factor-I prevents the accumulation of autophagic vesicles and cell death in Purkinje neurons by increasing the rate of autophagosome-to-lysosome fusion and degradation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Secondary lipid accumulation in lysosomal disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Arylsulfatase G, a novel lysosomal sulfatase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

PLINK: a tool set for whole-genome association and population-based linkage analyses

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

The neuronal ceroid-lipofuscinoses: from past to present

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Endoplasmic reticulum stress in health and disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Three-dimensional structures of sulfatases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Genome sequence, comparative analysis and haplotype structure of the domestic dog

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Haploview: analysis and visualization of LD and haplotype maps

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Association mapping in structured populations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Kufs' disease: a critical reappraisal

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Tibetan terrier model of canine ceroid lipofuscinosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Separation and analysis of arylsulfatase isoenzymes in body fluids of man

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Neuronal ceroid lipofuscinoses

14 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Neuronal ceroid-lipofuscinosis in a Japanese domestic shorthair cat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Interaction of arylsulfatase-A (ASA) with its natural sulfoglycolipid substrates: a computational and site-directed mutagenesis study

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914206107

Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Cerebellar cortical degeneration in adult American Staffordshire Terriers

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930459

Single-nucleotide polymorphism analysis by pyrosequencing

26 November 2018

1 reference

12 December 2020

Autosomal dominant Kufs' disease: a cause of early onset dementia

1 reference

12 December 2020

[Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases]

1 reference

12 December 2020

Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment

1 reference

12 December 2020

Neuronal Ceroid-lipofuscinosis in Nubian Goats

1 reference

12 December 2020

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0914206107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20679209%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

20679209

1 reference