Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants (Q92035269)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

title

Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Nicole Balasco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Sonia Di Gaetano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Luciano Pirone

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Daniela Caruso

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Luigi Vitagliano

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

publication date

19 July 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

page(s)

10519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

Structural basis for KCTD-mediated rapid desensitization of GABAB signalling

26 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Whi2: a new player in amino acid sensing

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

The essential player in adipogenesis GRP78 is a novel KCTD15 interactor.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Kctd13 deletion reduces synaptic transmission via increased RhoA.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

MicroRNA-155-3p Mediates TNF-α-Inhibited Cementoblast Differentiation.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Evidence of a prion-like transmission of p53 amyloid in Saccharomyces cerevisiae.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Genetic wiring maps of single-cell protein states reveal an off-switch for GPCR signalling.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Proteins involved in sleep homeostasis: Biophysical characterization of INC and its partners.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

The BTB domains of the potassium channel tetramerization domain proteins prevalently assume pentameric states

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Modular composition and dynamics of native GABAB receptors identified by high-resolution proteomics.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

KCTD5 is endowed with large, functionally relevant, interdomain motions

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Structural Insights into KCTD Protein Assembly and Cullin3 Recognition

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Nucleophosmin contains amyloidogenic regions that are able to form toxic aggregates under physiological conditions

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Cullin 3 Recognition Is Not a Universal Property among KCTD Proteins

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

The s2D method: simultaneous sequence-based prediction of the statistical populations of ordered and disordered regions in proteins

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Obesity-linked homologues TfAP-2 and Twz establish meal frequency in Drosophila melanogaster.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

GABAB receptor phosphorylation regulates KCTD12-induced K⁺ current desensitization

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Auxiliary GABAB receptor subunits uncouple G protein βγ subunits from effector channels to induce desensitization

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Prion-like aggregation of mutant p53 in cancer

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Molecular recognition of Cullin3 by KCTDs: Insights from experimental and computational investigations

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

The KCTD family of proteins: structure, function, disease relevance

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

A biophysical characterization of the folded domains of KCTD12: insights into interaction with the GABAB2 receptor

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Mutations in KCTD1 cause scalp-ear-nipple syndrome

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Cul3 and the BTB adaptor insomniac are key regulators of sleep homeostasis and a dopamine arousal pathway in Drosophila

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Mutant p53 aggregates into prion-like amyloid oligomers and fibrils: implications for cancer.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Design, synthesis and characterization of a peptide able to bind proteins of the KCTD family: implications for KCTD-cullin 3 recognition

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Molecular organization of the cullin E3 ligase adaptor KCTD11.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Molecular mechanism of Thioflavin-T binding to amyloid fibrils

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Cullin mediates degradation of RhoA through evolutionarily conserved BTB adaptors to control actin cytoskeleton structure and cell movement

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Pentameric Assembly of Potassium Channel Tetramerization Domain-Containing Protein 5

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

TFAP2A mutations result in branchio-oculo-facial syndrome

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Sequence and structural analysis of BTB domain proteins

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Chromosome 17p deletion in human medulloblastoma: a missing checkpoint in the Hedgehog pathway

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

Protein secondary structure prediction based on position-specific scoring matrices

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6642198

10.1038/S41598-019-46911-4

23 February 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

PubMed publication ID

31324836

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31324836%20AND%20SRC:MED&resulttype=core&format=json