ArticlePloS one2011
Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 25 citations in OpenAlex.
- Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.Journal of genetics and genomics = Yi chuan xue bao · 2022Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Association betweenTranslational pediatrics · 2022Article
- Elongator promotes neuritogenesisFrontiers in cell and developmental biology · 2022Article
- Retrograde nerve growth factor signaling abnormalities in familial dysautonomia.The Journal of clinical investigation · 2020Article
- [Syndromic Hirschsprung′s disease and its mode of inheritance].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.Disease models & mechanisms · 2016Article
- Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.The American journal of pathology · 2016Review
- Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.World journal of gastroenterology · 2015Article
- Article
- Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III.International journal of psychophysiology : official journal of the International Organization of Psychophysiology · 2014Article
- A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.Development (Cambridge, England) · 2014Article
- Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons.PloS one · 2014Article
- Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia.The Journal of physiology · 2013Article
- Mechanisms of disease in hereditary sensory and autonomic neuropathies.Nature reviews. Neurology · 2012Review
- hElp3 directly modulates the expression of HSP70 gene in HeLa cells via HAT activity.PloS one · 2011Article
- Familial Dysautonomia: Mechanisms and Models.Genetics and molecular biologyArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific mis-splicing of the gene and to the absence of the protein in neuronal tissues. To elucidate the function of IKAP/hELP1 in the development of neuronal cells, we have downregulated IKBKAP expression in SHSY5Y cells, a neuroblastoma cell line of a neural crest origin. We have previously shown that these cells exhibit abnormal cell adhesion when allowed to differentiate under defined culture conditions on laminin substratum. Here, we report results of a microarray expression analysis of IKAP/hELP1 downregulated cells that were grown on laminin under differentiation or non-differentiation growth conditions. It is shown that under non-differentiation growth conditions, IKAP/hELP1 downregulation affects genes important for early developmental stages of the nervous system, including cell signaling, cell adhesion and neural crest migration. IKAP/hELP1 downregulation during differentiation affects the expression of genes that play a role in late neuronal development, in axonal projection and synapse formation and function. We also show that IKAP/hELP1 deficiency affects the expression of genes involved in calcium metabolism before and after differentiation of the neuroblastoma cells. Hence, our data support IKAP/hELP1 importance in the development and function of neuronal cells and contribute to the understanding of the FD phenotype.
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