Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function (Q24295194)

polyribonucleotide 5'-hydroxyl-kinase activity

GOA release 2020-03-11

1 reference

CLP1, cleavage and polyadenylation factor I subunit

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Claudia Gonzaga-Jauregui

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Donna M Muzny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Shalini N Jhangiani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Ender Karaca

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Eric Boerwinkle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Toshikatsu Hanada

1 reference

1 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Sarenur Yilmaz

1 reference

1 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Alper Gezdirici

1 reference

1 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Davut Pehlivan

1 reference

1 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Gozde Yesil

1 reference

1 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Erkan Koparir

1 reference

1 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Stefan Weitzer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hiroshi Shiraishi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Tasos Gogakos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Wojciech Wiszniewski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Marjorie Withers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Sedat Isikay

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Luis M Franco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Violet Gelowani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jill V Hunter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Miguel Brown

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Daniel Briskin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Thalia A Farazi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Christian Bernreuther

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Joachim Friske

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Claudia Kronnerwetter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Matthew N Bainbridge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Mehmet Seven

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Adnan Yuksel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Andreas Hess

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Javier Martinez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Baylor Hopkins Center for Mendelian Genomics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Thomas Tuschl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

24 April 2014

0 references

published in

Cell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

157

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

636-650

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

1 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

HSPC117 is the essential subunit of a human tRNA splicing ligase complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

p53 downregulates its activating vaccinia-related kinase 1, forming a new autoregulatory loop

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Structure of a nucleotide-bound Clp1-Pcf11 polyadenylation factor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

tRNA biology charges to the front

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Circular binary segmentation for the analysis of array-based DNA copy number data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

CLP1 links tRNA metabolism to progressive motor-neuron loss

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Clan genomics and the complex architecture of human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Roles of VRK1 as a new player in the control of biological processes required for cell division.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Identification of deleterious mutations within three human genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

SNAP predicts effect of mutations on protein function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

The human gene mutation database

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Head circumference reference data: birth to 18 years.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

Alternative cell death of Apaf1-deficient neural progenitor cells induced by withdrawal of EGF or insulin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146440

New Methods for Detecting Lineage-Specific Selection

29 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.02.058

7 January 2021

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.02.058

7 January 2021

Barcoded cDNA library preparation for small RNA profiling by next-generation sequencing

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.02.058

7 January 2021

Cerebral organoids model human brain development and microcephaly

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.02.058

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.02.058

7 January 2021

10.1016/J.CELL.2014.02.058

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

24766809

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24766809%20AND%20SRC:MED&resulttype=core&format=json