(Q34285108)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

case report

0 references

title

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

ubiquitin-proteasome system

6 February 2020

main subject

0 references

Potassium channel tetramerization domain containing 7

1 reference

neuronal ceroid lipofuscinosis

GOA release 2020-03-11

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Elaine T Lim

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

K B Leydiker

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

13

Mark J Daly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

15

Susan L Cotman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

John F Staropoli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Andrew Kirby

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Naser Elbalalesy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Stephen G Romansky

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Scott H Coppel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Rosemary Barone

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Winnie Xin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Jose E Abdenur

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Katherine B Sims

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Marcy E MacDonald

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

28 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

202-208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy

6 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=3397260

Cullin-3 regulates late endosome maturation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

COP9 signalosome regulates autophagosome maturation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

The functional spectrum of low-frequency coding variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Targeting autophagy in the brain: a promising approach?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Review: autophagy and neurodegeneration: survival at a cost?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Analysis of the role of COP9 Signalosome (CSN) subunits in K562; the first link between CSN and autophagy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

KCTD5, a putative substrate adaptor for cullin3 ubiquitin ligases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Arabidopsis has two redundant Cullin3 proteins that are essential for embryo development and that interact with RBX1 and BTB proteins to form multisubunit E3 ubiquitin ligase complexes in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

A hitchhiker's guide to the cullin ubiquitin ligases: SCF and its kin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Accounting for human polymorphisms predicted to affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Neurological potassium channelopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Familial Kufs' disease presenting as a progressive myoclonic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Molecular organization of the cullin E3 ligase adaptor KCTD11.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

Neuronal ceroid lipofuscinoses

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

BTB domain-containing speckle-type POZ protein (SPOP) serves as an adaptor of Daxx for ubiquitination by Cul3-based ubiquitin ligase.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397260

The neuronal ceroid lipofuscinoses: the same, but different?

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22748208

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distribution of the auxiliary GABAB receptor subunits KCTD8, 12, 12b, and 16 in the mouse brain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22748208

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.05.023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22748208%20AND%20SRC:MED&resulttype=core&format=json