(Q48056435)

8 February 2018

title

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome (English)

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8 February 2018

author

James S. Sutcliffe

2

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author name string

T Matsuura

1

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8 February 2018

P Fang

3

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R J Galjaard

4

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Y H Jiang

5

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8 February 2018

C S Benton

6

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8 February 2018

J M Rommens

7

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8 February 2018

A L Beaudet

8

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language of work or name

English

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publication date

1 January 1997

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

15

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8 February 2018

issue

1

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8 February 2018

page(s)

74-77

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8 February 2018

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

cites work

1 reference

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

21 January 2018

1 reference

7 January 2021

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

1 reference

7 January 2021

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

1 reference

7 January 2021

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1 reference

7 January 2021

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

1 reference

7 January 2021

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

7 January 2021

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

1 reference

7 January 2021

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

1 reference

7 January 2021

Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13

1 reference

7 January 2021

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

1 reference

7 January 2021

Promoter-specific imprinting of the human insulin-like growth factor-II gene

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7 January 2021

Parental imprinting of the mouse insulin-like growth factor II gene.

1 reference

7 January 2021

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

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7 January 2021

The ubiquitin-conjugation system

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7 January 2021

The ubiquitin-proteasome proteolytic pathway

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7 January 2021

Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade

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7 January 2021

A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase

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7 January 2021

Selective protein degradation: a journey's end within the proteasome

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7 January 2021

Protein degradation or regulation: Ub the judge

1 reference

7 January 2021

Site-specific phosphorylation of IkappaBalpha by a novel ubiquitination-dependent protein kinase activity

1 reference

7 January 2021

Ubiquitination of a yeast plasma membrane receptor signals its ligand-stimulated endocytosis

1 reference

7 January 2021

Identification of a novel family of ubiquitin-conjugating enzymes with distinct amino-terminal extensions

1 reference

7 January 2021

bendless, a Drosophila gene affecting neuronal connectivity, encodes a ubiquitin-conjugating enzyme homolog

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0197-74

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8 February 2018

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8 February 2018