Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development. [PDF]
Dev DynABSTRACTBackgroundThe trigeminal nerve is the largest cranial nerve and functions in somatosensation. Cell bodies of this nerve are positioned in the trigeminal ganglion, which arises from the coalescence of neural crest and placode cells. While this dual cellular origin has been known for decades, the molecular mechanisms controlling trigeminal ...
Hines MA, Taneyhill LA.
europepmc +7 more sources
Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway [PDF]
Biology Open, 2021 Elongator dysfunction is increasingly recognized as a contributor to multiple neurodevelopmental and neurodegenerative disorders including familial dysautonomia, intellectual disability, amyotrophic lateral sclerosis, and autism spectrum disorder ...
BreAnna Cameron +9 more
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Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia
Neurobiology of DiseaseFamilial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons.
Frederik Arnskötter +18 more
doaj +4 more sources
IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration. [PDF]
PLoS ONE, 2012 Familial Dysautonomia (FD; Hereditary Sensory Autonomic Neuropathy; HSAN III) manifests from a failure in development of the peripheral sensory and autonomic nervous systems. The disease results from a point mutation in the IKBKAP gene, which encodes the
Barbara J Hunnicutt +3 more
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MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia [PDF]
Disease Models & Mechanisms, 2016 Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
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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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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
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Evolutionary evidence precludes ELP1 as a high-penetrance pediatric cancer predisposition syndrome gene. [PDF]
Neurooncol AdvAmund Henriksen K +5 more
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Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window. [PDF]
Neurooncol AdvAbstract Background ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.
Guerrini-Rousseau L +36 more
europepmc +7 more sources
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype [PDF]
Journal of Human Genetics, 2023 Abstract Background Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability and social deficits. The genetic factors underlying the complex phenotype of NDDs remain to be elucidated. Accumulating evidence suggest that the Elongator complex plays a role in
Abbassi, Nour +11 more
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