(Q36375822)

13 August 2017

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

1 reference

13 August 2017

Paula Dietrich

1

1 reference

13 August 2017

Shanta Alli

series ordinal

2

1 reference

13 August 2017

Revathi Shanmugasundaram

series ordinal

3

1 reference

13 August 2017

Ioannis Dragatsis

series ordinal

4

1 reference

13 August 2017

24 August 2012

1 reference

13 August 2017

Human Molecular Genetics

1 reference

13 August 2017

21

1 reference

13 August 2017

23

1 reference

13 August 2017

5078-5090

1 reference

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

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Renal transplantation in familial dysautonomia: report of two cases and review of the literature.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Cardiac sympathetic hypo-innervation in familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Plasma catechols in familial dysautonomia: a long-term follow-up study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Familial dysautonomia: a review of the current pharmacological treatments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

30 September 2017

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Growth hormone treatment in children with familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Time course of morphological alterations of fungiform papillae and taste buds following chorda tympani transection in neonatal rats.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Purification and characterization of the human elongator complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Familial dysautonomia is caused by mutations of the IKAP gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

IKAP is a scaffold protein of the IkappaB kinase complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Neuropeptides in morphologically and functionally identified primary afferent neurons in dorsal root ganglia: substance P, CGRP and somatostatin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Lack of neurotrophin-3 leads to deficiencies in the peripheral nervous system and loss of limb proprioceptive afferents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Familial dysautonomia: diagnosis, pathogenesis and management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Tyrosine Hydroxylase Immunoreactivity in Familial Dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Conditional mutagenesis in mice with heat shock promoter-driven cre transgenes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Intrauterine Growth Retardation in Familial Dysautonomia

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Soma neurofilament immunoreactivity is related to cell size and fibre conduction velocity in rat primary sensory neurons

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation

28 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

Genomic organization and chromosomal localization of the mouse IKBKAP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

Cloning, characterization, and genomic structure of the mouse Ikbkap gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

Clinical neuro-ophthalmic findings in familial dysautonomia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS354

Neurotrophin receptor genes are expressed in distinct patterns in developing dorsal root ganglia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490515

RET signaling is essential for migration, axonal growth and axon guidance of developing sympathetic neurons

21 September 2018

1 reference

12 December 2020

Predominant neuronal B-cell loss in L5 DRG of p75 receptor-deficient mice

1 reference

12 December 2020

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia

1 reference

12 December 2020

Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia

1 reference

12 December 2020

Progressive sensory loss in familial dysautonomia

1 reference

12 December 2020

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia

1 reference

12 December 2020

Optic nerve dysfunction in familial dysautonomia

1 reference

12 December 2020

A method for unbiased and efficient estimation of number and mean volume of specified neuron subtypes in rat dorsal root ganglion

1 reference

12 December 2020

Are the neurons in the dorsal root ganglion pseudounipolar? A comparison of the number of neurons and number of myelinated and unmyelinated fibres in the dorsal root

1 reference

12 December 2020

Increased major salivary gland secretion in familial dysautonomia

1 reference

12 December 2020

Optic neuropathy in familial dysautonomia

1 reference

12 December 2020

Taste and smell in familial dysautonomia

1 reference

12 December 2020

ABSENCE OF TASTE-BUD PAPILLAE IN FAMILIAL DYSAUTONOMIA

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS354

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

22922231

1 reference