(Q30355775)

20 June 2017

title

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure. (English)

1 reference

protein structure prediction

20 June 2017

main subject

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mariacristina Siotto

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Renato Polimanti

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Serena Bucossi

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

publication date

20 November 2013

1 reference

20 June 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

53-64

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10534-013-9686-3

7 June 2020

exact match

0 references

cites work

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A method and server for predicting damaging missense mutations

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Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins

21 January 2018

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Metal Binding Domains 3 and 4 of the Wilson Disease Protein: Solution Structure and Interaction with the Copper(I) Chaperone HAH1 † ‡

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Structural organization of human Cu-transporting ATPases: learning from building blocks

21 January 2018

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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

21 January 2018

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The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

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Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells

21 January 2018

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Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity

21 January 2018

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Mutation analysis of Wilson disease in the Spanish population - identification of a prevalent substitution and eight novel mutations in the ATP7B gene

21 January 2018

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Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation

21 January 2018

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10.1007/S10534-013-9686-3

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 June 2020

1006724567

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24253677%20AND%20SRC:MED&resulttype=core&format=json