Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells. [PDF]
PLoS ONE, 2010 Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system.
Hadas Keren +5 more
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The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system [PDF]
Disease Models & Mechanisms, 2017 Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction.
Marta Chaverra +15 more
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Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype [PDF]
World Journal of Gastroenterology, 2015 © The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved. AIM: To investigate the role of IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) in the development of ...
So, Man Ting +13 more
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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect [PDF]
Genomics, 2007 Familial dysautonomia (FD) is a severe hereditary sensory and autonomic neuropathy, and all patients with FD have a splice mutation in the IKBKAP gene. The FD splice mutation results in variable, tissue-specific skipping of exon 20 in IKBKAP mRNA, which ...
Gusella, James F. +15 more
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Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia
Clinical Neurophysiology, 2018 Objective: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy – caused by a mutation in the IKBKAP gene (c.2204 + 6 T > C) – and characterized by marked gait ataxia.
Lucy Norcliffe-Kaufmann +13 more
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Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia [PDF]
The American Journal of Human Genetics, 2003 We recently identified a mutation in the I-κB kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy.
Lu, Weining +9 more
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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia [PDF]
The American Journal of Human Genetics, 2001 Familial dysautonomia (FD; also known as “Riley-Day syndrome”), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction.
Blumenfeld, Anat +35 more
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RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in theIKBKAPgene of familial dysautonomia [PDF]
RNA, 2017 The 5′ splice site mutation (IVS20+6T>C) of theinhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein(IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5′ splice site.
Masatoshi Hagiwara +11 more
core +3 more sources
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.
Human Mutation, 2006 Splicing mutations that lead to devastating genetic diseases are often located in nonconserved or weakly conserved sequences that normally do not affect splicing. Thus, the underlying reason for the splicing defect is not immediately obvious.
Reed, Robin +8 more
core +5 more sources
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
The Application of Clinical Genetics, 2017 Berish Y Rubin, Sylvia L Anderson Department of Biological Sciences, Fordham University, Bronx, NY, USA Abstract: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders ...
Rubin BY, Anderson SL
doaj +5 more sources