(Q28284058)

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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor (English)

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45

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Richard Wooster

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Richard Wooster

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Sarah O'Meara

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Keiran Raine

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Sara Widaa

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Tatiana Mironenko

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Tatiana Mironenko

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Lucianne Vandeleur

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Lucianne Vandeleur

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Syd Barthorpe

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Gemma Buck

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Jennifer Varian

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Jennifer Varian

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Kristian Gray

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Andrew Jenkinson

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David Richardson

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David Richardson

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Jozef Gecz

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P. Andrew Futreal

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P Andrew Futreal

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Uma Mallya

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Douglas F. Easton

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Douglas F Easton

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Andrew Menzies

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Jon Teague

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Michael Stratton

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Michael R Stratton

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David Jones

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Patrick S. Tarpey

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Patrick S Tarpey

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Tim Avis

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Jackie Boyle

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Sofie West

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Kelly Halliday

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Jayson Rodriguez

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Jayson Rodriguez

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Alexandra Small

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Alexandra Small

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Calli Tofts

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Gillian Turner

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author name string

F Lucy Raymond

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Adam Butler

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Ed Dicks

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Claire Stevens

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Jennifer Cole

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Rachel Harrison

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Katy Hills

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Janet Perry

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Rebecca Shepherd

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Jenny Moon

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Ying Luo

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Susan Holder

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Sarah F Smithson

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Jane A Hurst

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Jill Clayton-Smith

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Bronwyn Kerr

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Marie Shaw

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Rachel Slaugh

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Anand K Srivastava

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Roger E Stevenson

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Charles E Schwartz

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Michael Partington

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publication date

February 2007

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American Journal of Human Genetics

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80

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2

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345-52

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UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

Involvement of CUL4 ubiquitin E3 ligases in regulating CDK inhibitors Dacapo/p27Kip1 and cyclin E degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

Function and regulation of cullin-RING ubiquitin ligases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

The SCF ubiquitin ligase: insights into a molecular machine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

U box proteins as a new family of ubiquitin-protein ligases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

20 March 2017

A multiubiquitin chain is confined to specific lysine in a targeted short-lived protein

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

7 April 2017

The ubiquitin system for protein degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

7 April 2017

L2DTL/CDT2 interacts with the CUL4/DDB1 complex and PCNA and regulates CDT1 proteolysis in response to DNA damage

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

Genetics and pathophysiology of mental retardation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

ARX: a gene for all seasons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

Oncogenic aberrations of cullin-dependent ubiquitin ligases

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

Ratchets and clocks: the cell cycle, ubiquitylation and protein turnover

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

When protein destruction runs amok, malignancy is on the loose

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

Emerging roles of ubiquitin in transcription regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

Splitting and lumping in the nosology of XLMR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

2 June 2018

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

27 November 2018

X-linked mental retardation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785336

27 November 2018

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