(Q45845758)

English

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

scientific article published on 14 September 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

cerebellar hypoplasia

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based on heuristic

inferred from title

3

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Pierre Billuart

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Andrea Brancaccio

8

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Filomena Pirozzi

object named as

Filomena Pirozzi

1

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Tommaso Tartaglione

object named as

Tommaso Tartaglione

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author name string

Francesca Romana Di Raimo

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Elisabetta Tabolacci

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Giovanni Neri

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Pietro Chiurazzi

10

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

publication date

14 September 2011

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

32

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

E2294-307

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Bar domain proteins: a role in tubulation, scission and actin assembly in clathrin-mediated endocytosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

A BAR domain-mediated autoinhibitory mechanism for RhoGAPs of the GRAF family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The genetic landscape of intellectual disability arising from chromosome X.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The role of the Rho GTPases in neuronal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The BAR-domain family of proteins: a case of bending and binding?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Protein structure prediction on the Web: a case study using the Phyre server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Crystal structures of the BAR-PH and PTB domains of human APPL1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Deletion of the OPHN1 gene detected by aCGH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

BAR domains as sensors of membrane curvature: the amphiphysin BAR structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

The structural basis of Arfaptin-mediated cross-talk between Rac and Arf signalling pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Structure of the APPL1 BAR-PH domain and characterization of its interaction with Rab5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21567

21 January 2018

Identifiers

10.1002/HUMU.21567

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/21796728

ResearchGate publication ID

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