(Q42428335)

English

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

scientific article published on 19 August 2015

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scholarly article

1 reference

Europe PubMed Central

31 October 2017

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia (English)

1 reference

Europe PubMed Central

31 October 2017

0 references

Ribosomal protein L10

1 reference

GOA release 2020-03-11

translation regulator activity

1 reference

GOA release 2020-03-11

X-linked intellectual disability

0 references

cerebellar hypoplasia

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Vera M. Kalscheuer

2

1 reference

Europe PubMed Central

31 October 2017

object named as

Sabina Barresi

4

0 references

object named as

Ginevra Zanni

1

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object named as

Marco Cappa

13

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object named as

Enrico Bertini

14

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object named as

Stefan A Haas

7

0 references

Emanuele Bellacchio

11

object named as

Emanuele Bellacchio

1 reference

Europe PubMed Central

31 October 2017

5

object named as

Paolo Alfieri

1 reference

Europe PubMed Central

31 October 2017

Giorgia Piccini

8

object named as

Giorgia Piccini

1 reference

Europe PubMed Central

31 October 2017

Lore Breitenbach-Koller

15

object named as

Lore Breitenbach-Koller

1 reference

Europe PubMed Central

31 October 2017

author name string

Andreas Friedrich

3

1 reference

Europe PubMed Central

31 October 2017

Matteo Di Capua

6

1 reference

Europe PubMed Central

31 October 2017

Thomas Karl

9

1 reference

Europe PubMed Central

31 October 2017

Sabine M Klauck

10

1 reference

Europe PubMed Central

31 October 2017

Francesco Emma

12

1 reference

Europe PubMed Central

31 October 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

19 August 2015

1 reference

Europe PubMed Central

31 October 2017

1 reference

Europe PubMed Central

31 October 2017

36

1 reference

Europe PubMed Central

31 October 2017

12

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Europe PubMed Central

31 October 2017

1155-1158

1 reference

Europe PubMed Central

31 October 2017

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Protein signatures of oxidative stress response in a patient specific cell line model for autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Nuclear export of 60s ribosomal subunits depends on Xpo1p and requires a nuclear export sequence-containing factor, Nmd3p, that associates with the large subunit protein Rpl10p

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

The ribosomal protein QM is expressed differentially during vertebrate endochondral bone development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Presenilin 1 suppresses the function of c-Jun homodimers via interaction with QM/Jif-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Crystal structure of human ribosomal protein L10 core domain reveals eukaryote-specific motifs in addition to the conserved fold

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Translational regulator RpL10p/Grc5p interacts physically and functionally with Sed1p, a dynamic component of the yeast cell surface

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Ribosomal protein L10 interacts with the SH3 domain and regulates GDNF-induced neurite growth in SH-SY-5y cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Yeast ribosomal protein L10 helps coordinate tRNA movement through the large subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

The TRAPP complex: insights into its architecture and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Regulation of translation initiation in eukaryotes: mechanisms and biological targets

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Structure of the 80S ribosome from Saccharomyces cerevisiae--tRNA-ribosome and subunit-subunit interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Eukaryotic rpL10 drives ribosomal rotation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Defining the order in which Nmd3p and Rpl10p load onto nascent 60S ribosomal subunits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22860

21 January 2018

Identifiers

10.1002/HUMU.22860

1 reference

Europe PubMed Central

31 October 2017

1 reference

Europe PubMed Central

31 October 2017

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