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Transcription Impairment and Cell Migration Defects in Elongator-Depleted Cells: Implication for Familial Dysautonomia

Molecular cell, 2006-05, Vol.22 (4), p.521-531

2006

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Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

Nature biotechnology, 2012-12, Vol.30 (12), p.1244-1248

2012

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Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Nature communications, 2021-07, Vol.12 (1), p.4507-4507, Article 4507

2021

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Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models

Nature communications, 2022-11, Vol.13 (1), p.7032-17, Article 7032

2022

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Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Nature communications, 2018-03, Vol.9 (1), p.889-10, Article 889

2018

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Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

Proceedings of the National Academy of Sciences - PNAS, 2015-03, Vol.112 (9), p.2764-2769

2015

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Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Scientific reports, 2023-10, Vol.13 (1), p.18600-18600, Article 18600

2023

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Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Scientific reports, 2024-01, Vol.14 (1), p.570-570, Article 570

2024

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Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial

Hypertension (Dallas, Tex. 1979), 2020-09, Vol.76 (3), p.724-731

2020

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Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

Human molecular genetics, 2016-03, Vol.25 (6), p.1116-1128

2016

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Retrograde nerve growth factor signaling abnormalities in familial dysautonomia

The Journal of clinical investigation, 2020-05, Vol.130 (5), p.2478-2487

2020

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ATP-citrate lyase promotes axonal transport across species

Nature communications, 2021-10, Vol.12 (1), p.5878-5878, Article 5878

2021

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Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

eLife, 2022-06, Vol.11

2022

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BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia

Proceedings of the National Academy of Sciences - PNAS, 2017-05, Vol.114 (19), p.5035-5040

2017

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Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

Journal of genetics and genomics, 2022-07, Vol.49 (7), p.654-665

2022

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Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients

PloS one, 2019-03, Vol.14 (3), p.e0211602-e0211602

2019

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RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia

RNA (Cambridge), 2017-09, Vol.23 (9), p.1393-1403

2017

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Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study

Journal of pediatric gastroenterology and nutrition, 2019-03, Vol.Publish Ahead of Print (3), p.422-427

2019

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

Human molecular genetics, 2012-12, Vol.21 (23), p.5078-5090

2012

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Modify or die? - RNA modification defects in metazoans

RNA biology, 2014-12, Vol.11 (12), p.1555-1567

2014

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Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia

Neurobiology of disease, 2017-07, Vol.103, p.113-122

2017

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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

PloS one, 2015-10, Vol.10 (10), p.e0138807-e0138807

2015

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Phosphatidylserine enhances IKBKAP transcription by activating the MAPK/ERK signaling pathway

Human molecular genetics, 2016-04, Vol.25 (7), p.1307-1317

2016

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

Human molecular genetics, 2013-07, Vol.22 (14), p.2785-2794

2013

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Cardiac glycosides correct aberrant splicing of IKBKAP‐encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3

The FEBS journal, 2013-08, Vol.280 (15), p.3632-3646

2013

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Transcription Impairment and Cell Migration Defects in Elongator-Depleted Cells: Implication for Familial Dysautonomia

Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

Retrograde nerve growth factor signaling abnormalities in familial dysautonomia

ATP-citrate lyase promotes axonal transport across species

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients

RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia

Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study

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

Modify or die? - RNA modification defects in metazoans

Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia

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

Phosphatidylserine enhances IKBKAP transcription by activating the MAPK/ERK signaling pathway

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

Cardiac glycosides correct aberrant splicing of IKBKAP‐encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3

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