(Q21283799)

2 July 2017

title

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS). (English)

1 reference

amyotrophic lateral sclerosis

2 July 2017

main subject

0 references

author

Karen Brøndum-Nielsen

2

object named as

Karen Brondum-Nielsen

Karen

Brondum-Nielsen

1 reference

Dimensions

18 August 2022

7

Niels Tommerup

Niels

Tommerup

1 reference

Dimensions

18 August 2022

Asli N Silahtaroglu

1

Asli N

Silahtaroglu

1 reference

Dimensions

ORCID Public Data File 2021

18 August 2022

1 reference

Ole Gredal

3

Ole

Gredal

2 references

2 July 2017

18 August 2022

Lene Werdelin

4

Lene

Werdelin

2 references

2 July 2017

18 August 2022

Marios Panas

5

Marios

Panas

2 references

2 July 2017

18 August 2022

Michael B Petersen

6

Michael B

Petersen

2 references

2 July 2017

18 August 2022

Zeynep Tümer

8

1 reference

2 July 2017

language of work or name

English

0 references

publication date

19 April 2002

1 reference

2 July 2017

1 reference

2 July 2017

volume

3

1 reference

2 July 2017

issue

1

0 references

page(s)

5

1 reference

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

2 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

A catalogue of splice junction sequences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Metallochaperones, an intracellular shuttle service for metal ions

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Cloning and mapping of murine superoxide dismutase copper chaperone (Ccsd) and mapping of the human ortholog

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Absence of the mutant SOD1 in familial amyotrophic lateral sclerosis (FALS) with two base pair deletion in the SOD1 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107843

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

29 November 2018

1 reference

12 December 2020

Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

1 reference

12 December 2020

Domains I and III of the human copper chaperone for superoxide dismutase interact via a cysteine-bridged Dicopper(I) cluster

1 reference

12 December 2020

Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis

1 reference

12 December 2020

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

1 reference

12 December 2020

Erratum: Genetic inroads in familial ALS

1 reference

12 December 2020

Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading

1 reference

12 December 2020

Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-3-5

1 reference

2 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2156-3-5

1 reference

9 September 2019

PMC publication ID

107843

0 references

1 reference