(Q28550043)

English

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437462%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437462%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

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based on heuristic

inferred from title

human embryonic stem cell

1 reference

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Sharona Even-Ram

9

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437462%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Benjamin Reubinoff

14

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26 February 2020

author name string

Sharon Lefler

1

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26 February 2020

Malkiel A Cohen

2

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26 February 2020

Gal Kantor

3

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26 February 2020

David Cheishvili

4

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26 February 2020

Aviel Even

5

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26 February 2020

Anastasya Birger

6

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26 February 2020

Tikva Turetsky

7

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26 February 2020

Yaniv Gil

8

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26 February 2020

Einat Aizenman

10

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26 February 2020

Nibal Bashir

11

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26 February 2020

Channa Maayan

12

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26 February 2020

Aharon Razin

13

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26 February 2020

Miguel Weil

15

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26 February 2020

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5 October 2015

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26 February 2020

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Europe PubMed Central

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26 February 2020

10

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26 February 2020

10

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Europe PubMed Central

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26 February 2020

e0138807

1 reference

Europe PubMed Central

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26 February 2020

copyright license

Creative Commons Attribution 4.0 International

5 October 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Phosphorylation of Elp1 by Hrr25 is required for elongator-dependent tRNA modification in yeast.

1 reference

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19 March 2017

Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells

1 reference

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19 March 2017

Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants

1 reference

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19 March 2017

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

A central role for Islet1 in sensory neuron development linking sensory and spinal gene regulatory programs

1 reference

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19 March 2017

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

1 reference

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19 March 2017

An early step in wobble uridine tRNA modification requires the Elongator complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites

1 reference

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19 March 2017

Purification and characterization of the human elongator complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

19 March 2017

Epigenetic memory in induced pluripotent stem cells

1 reference

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7 April 2017

Somatic coding mutations in human induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

7 April 2017

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

α-Synuclein membrane association is regulated by the Rab3a recycling machinery and presynaptic activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia

1 reference

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29 September 2017

SV2 regulates neurotransmitter release via multiple mechanisms

1 reference

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29 September 2017

Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells

1 reference

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29 September 2017

Elongator function in tRNA wobble uridine modification is conserved between yeast and plants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment

1 reference

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29 September 2017

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

1 reference

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29 September 2017

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1 reference

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29 September 2017

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

1 reference

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29 September 2017

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos

1 reference

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29 September 2017

Central autonomic dysfunction with defective lacrimation; report of five cases.

1 reference

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29 September 2017

Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis

1 reference

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29 September 2017

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

The rab exchange factor Sec2p reversibly associates with the exocyst

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Generation of a human embryonic stem cell line encoding the cystic fibrosis mutation deltaF508, using preimplantation genetic diagnosis

1 reference

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29 September 2017

Human embryonic stem cell lines with genetic disorders

1 reference

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29 September 2017

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

29 September 2017

RIM, Munc13, and Rab3A interplay in acrosomal exocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

3 June 2018

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4593545

3 June 2018

A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

1 reference

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21 January 2018

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

Preimplantation genetic diagnosis

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

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21 January 2018

Human ESC-derived neural crest model reveals a key role for SOX2 in sensory neurogenesis

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

Peripheral nervous system progenitors can be reprogrammed to produce myelinating oligodendrocytes and repair brain lesions.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

Relative expression of Slug, RhoB, and HNK-1 in the cranial neural crest of the early chicken embryo.

1 reference

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21 January 2018

Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0138807

21 January 2018

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

1 reference

https://pubmed.ncbi.nlm.nih.gov/26437462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0138807

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437462%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

2015PLoSO..1038807L

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437462%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437462%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

ResearchGate publication ID

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