TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy (Q24296777)

neuron projection development

GOA release 2020-03-11

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GOA release 2020-03-11

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8

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Anna Fassio

12

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Davide De Pietri Tonelli

object named as

Davide De Pietri Tonelli

6

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Federico Zara

object named as

Federico Zara

13

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Fabrizio De Falco

object named as

Fabrizio A de Falco

7

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author name string

Antonio Falace

1

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Fabia Filipello

2

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Veronica La Padula

3

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Nicola Vanni

4

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Francesca Madia

5

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Franca Dagna Bricarelli

9

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Carlo Minetti

10

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Fabio Benfenati

American Journal of Human Genetics

11

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language of work or name

English

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publication date

10 September 2010

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published in

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volume

87

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issue

3

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page(s)

365-70

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on focus list of Wikimedia project

ScienceSource

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cites work

The TBC (Tre-2/Bub2/Cdc16) domain protein TRE17 regulates plasma membrane-endosomal trafficking through activation of Arf6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

ARF6 and EFA6A regulate the development and maintenance of dendritic spines

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

Regulation of dendritic development by the ARF exchange factor ARNO

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

C7, a novel nucleolar protein, is the mouse homologue of the Drosophila late puff product L82 and an isoform of human OXR1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

ARF proteins: roles in membrane traffic and beyond

19 March 2017

1 reference

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AMPA receptor signaling through BRAG2 and Arf6 critical for long-term synaptic depression

7 April 2017

1 reference

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EFHC1 interacts with microtubules to regulate cell division and cortical development

27 September 2017

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Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy.

27 September 2017

1 reference

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Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

ARF6 in the nervous system

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

Sacred disease secrets revealed: the genetics of human epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

ARNO and ARF6 Regulate Axonal Elongation and Branching through Downstream Activation of Phosphatidylinositol 4-Phosphate 5-Kinase α

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

Cellular biology of epileptogenesis

27 September 2017

1 reference

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Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance

27 September 2017

1 reference

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Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

27 September 2017

1 reference

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ADP-ribosylation factor 6 regulates a novel plasma membrane recycling pathway

27 September 2017

1 reference

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Opposite changes in glutamatergic and GABAergic transmission underlie the diffuse hyperexcitability of synapsin I-deficient cortical networks

27 September 2017

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Molecular characterization and bioinformatics analysis of Ncoa7B, a novel ovulation-associated and reproduction system-specific Ncoa7 isoform.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

The primate-specific protein TBC1D3 is required for optimal macropinocytosis in a novel ARF6-dependent pathway

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

Single-cell detection of microRNAs in developing vertebrate embryos after acute administration of a dual-fluorescence reporter/sensor plasmid.

29 November 2018

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Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933335

Determination of fractal dimension of physiologically characterized neurons in two and three dimensions

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20727515

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20727515

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.07.020

1 reference

release_6smd5763ofglbj6nyaaqlxsj4q

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6smd5763ofglbj6nyaaqlxsj4q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

1 reference

PubMed publication ID

20727515

1 reference