(Q36638550)

15 August 2017

Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease (English)

1 reference

15 August 2017

0 references

1 reference

linkage disequilibrium

1 reference

Emanuele Cassetta

8

0 references

Renato Polimanti

object named as

Renato Polimanti

2

0 references

Rosanna Squitti

object named as

Rosanna Squitti

1

0 references

Stefania Mariani

5

object named as

Stefania Mariani

1 reference

15 August 2017

Serena Bucossi

3

1 reference

15 August 2017

Mariacarla Ventriglia

4

1 reference

15 August 2017

Dario Manfellotto

6

1 reference

15 August 2017

Fabrizio Vernieri

7

1 reference

15 August 2017

Francesca Ursini

9

1 reference

15 August 2017

Paolo Maria Rossini

10

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 February 2013

1 reference

15 August 2017

Rejuvenation Research

1 reference

15 August 2017

16

1 reference

15 August 2017

1

1 reference

15 August 2017

3-10

1 reference

Copper toxicity in Alzheimer's disease: cognitive loss from ingestion of inorganic copper

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Diverse functional properties of Wilson disease ATP7B variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Zinc and tetrathiomolybdate for the treatment of Wilson's disease and the potential efficacy of anticopper therapy in a wide variety of diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Neurologic Wilson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Agents complexing copper as a therapeutic strategy for the treatment of Alzheimer's disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Therapeutics for Alzheimer's disease based on the metal hypothesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

PGA: power calculator for case-control genetic association analyses.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Excess of nonceruloplasmin serum copper in AD correlates with MMSE, CSF [beta]-amyloid, and h-tau.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Haploview: analysis and visualization of LD and haplotype maps

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

The structure of haplotype blocks in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Copper dysfunction in Alzheimer's disease: from meta-analysis of biochemical studies to new insight into genetics

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Copper hypothesis in the missing hereditability of sporadic Alzheimer's disease: ATP7B gene as potential harbor of rare variants.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Copper in Alzheimer disease: too much, too little, or misplaced?

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Elevated labile Cu is associated with oxidative pathology in Alzheimer disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Effects of hemochromatosis and transferrin gene mutations on iron dyshomeostasis, liver dysfunction and on the risk of Alzheimer's disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Longitudinal prognostic value of serum "free" copper in patients with Alzheimer disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

SNPStats: a web tool for the analysis of association studies.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582274

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22950421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22950421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1089/REJ.2012.1357

1 reference

15 August 2017

1 reference

15 August 2017

1 reference