(Q28116199)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

main subject

1 reference

protein domain specific binding

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Juan S. Bonifacino

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Rafael Mattera

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Eduardo Sainz

4

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rachel Rahn

5

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Joanne Gutierrez

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Emily Paris

7

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jessica Root

8

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Beth Solomon

9

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Carmen Brewer

10

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Shaheen Khan

12

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Sheikh Riazuddin

13

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Dennis Drayna

16

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

M Hashim Raza

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

M Asim Raza Basra

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Allen Braun

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

1 November 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 February 2020

published in

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

97

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

5

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

715-725

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

Niemann-Pick disease type C

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

AP-4, a novel protein complex related to clathrin adaptors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Characterization of a fourth adaptor-related protein complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Genomewide significant linkage to stuttering on chromosome 12.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Adaptins: the final recount

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Stuck in traffic: an emerging theme in diseases of the nervous system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

The adaptor protein-1 μ1B subunit expands the repertoire of basolateral sorting signal recognition in epithelial cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Conservation and diversification of dileucine signal recognition by adaptor protein (AP) complex variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

DCTN1 mutations in Perry syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Genetic studies of stuttering in a founder population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

New complexities in the genetics of stuttering: significant sex-specific linkage signals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Vertical transmission of susceptibility to stuttering with sex-modified expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Genetic and environmental effects on stuttering: a twin study from Finland

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

Heritability and environmental effects for self-reported periods with stuttering: a twin study from Denmark.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667129

10.1016/J.AJHG.2015.10.007

27 November 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26544806%20AND%20SRC:MED&resulttype=core&format=json