Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia [PDF]
eLife, 2022 Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired facial pain and temperature perception.
Carrie E Leonard +3 more
doaj +6 more sources
Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target [PDF]
Cancer CellGermline loss-of-function (LOF) variants in Elongator acetyltransferase complex subunit 1 (ELP1) are the most prevalent predisposing genetic events in childhood medulloblastoma (MB), accounting for ∼30% of the Sonic hedgehog (SHH) 3 subtype.
Paul Northcott, Taha Soliman
exaly +9 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
doaj +3 more sources
Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression. [PDF]
PLoS Genetics, 2013 Mouse Ikbkap gene encodes IKAP--one of the core subunits of Elongator--and is thought to be involved in transcription. However, the biological function of IKAP, particularly within the context of an animal model, remains poorly characterized.
Fu-Jung Lin +4 more
doaj +5 more sources
Deletion of Elongator Protein 1 (Elp1) relieves heterochromatin defects in a Pol II mutant of Schizosaccharomyces pombe [PDF]
GeneticsAbstract Heterochromatin is a repressive epigenetic state that suppresses transcription and safeguards genomic integrity. However, the full mechanism of its regulation remains elusive. Here, we focus on a previously described RNA polymerase II (Pol II) variant called m203 in Schizosaccharomyces pombe, which has a single substitution ...
Tommy Võ, Mamta Nirmal
exaly +4 more sources
Loss-of-function of IKAP/ELP1:could neuronal migration defect underlie familial dysautonomia? [PDF]
Cell Adhesion & Migration, 2008 Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system.
Kallunki, Tuula +3 more
core +4 more sources
(H)Elping nerve growth factor: Elp1 inhibits TrkA’s phosphatase to maintain retrograde signaling [PDF]
Journal of Clinical Investigation, 2020 Nerve growth factor (NGF) regulates many aspects of neuronal biology by retrogradely propagating signals along axons to the targets of those axons.
David R. Kaplan +3 more
core +6 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
doaj +4 more sources
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 +3 more sources
Elongator promotes neuritogenesis via regulation of tau stability through acly activity
Frontiers in Cell and Developmental Biology, 2022 The six subunits (Elp1 to Elp6) Elongator complex promotes specific uridine modifications in tRNA’s wobble site. Moreover, this complex has been indirectly involved in the regulation of α-tubulin acetylation in microtubules (MTs) via the stabilization of
Michal Shilian +4 more
doaj +2 more sources