Elp1 is required for development of visceral sensory peripheral and central circuitry [PDF]
Disease Models & Mechanisms, 2022 Cardiovascular instability and a blunted respiratory drive in hypoxic conditions are hallmark features of the genetic sensory and autonomic neuropathy, familial dysautonomia (FD).
Zariah Tolman +3 more
doaj +6 more sources
Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation [PDF]
Journal of Biomedical Science, 2021 Background RAD51-dependent homologous recombination (HR) is one of the most important pathways for repairing DNA double-strand breaks (DSBs), and its regulation is crucial to maintain genome integrity.
Wei-Ting Chen +8 more
doaj +6 more sources
Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia
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 +5 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 +13 more sources
Phosphorylation of Elp1 by Hrr25 is required for elongator-dependent tRNA modification in yeast.
PLoS Genetics, 2015 Elongator is a conserved protein complex comprising six different polypeptides that has been ascribed a wide range of functions, but which is now known to be required for modification of uridine residues in the wobble position of a subset of tRNAs in ...
Wael Abdel-Fattah +9 more
doaj +6 more sources
Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure. [PDF]
PLoS ONEFamilial Dysautonomia (FD) is a rare disease caused by ELP1 exon 20 skipping. Here we clarify the role of RNA Polymerase II (RNAPII) and chromatin on this splicing event.
Federico Riccardi +3 more
doaj +5 more sources
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia [PDF]
Molecular Therapy: Nucleic AcidsFamilial dysautonomia (FD) is a rare autosomal recessive neurodegenerative disorder caused by a splicing mutation in the ELP1 gene. It predominantly affects the sensory and autonomic nervous systems, with progressive vision loss due to optic neuropathy ...
Anil Chekuri +12 more
doaj +2 more sources
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators [PDF]
Scientific Reports, 2023 Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene.
Anastasia Schultz +14 more
doaj +2 more sources
Use of a Yeast tRNase Killer Toxin to Diagnose Kti12 Motifs Required for tRNA Modification by Elongator [PDF]
Toxins, 2017 Saccharomyces cerevisiae cells are killed by zymocin, a tRNase ribotoxin complex from Kluyveromyces lactis, which cleaves anticodons and inhibits protein synthesis.
Constance Mehlgarten +11 more
doaj +5 more sources
Targeted c-Myc Inhibition and Systemic Temozolomide Therapy Extend Survival in Glioblastoma Xenografts [PDF]
Bioengineering, 2023 Glioblastoma is a highly aggressive disease with poor patient outcomes despite current treatment options, which consist of surgery, radiation, and chemotherapy.
Laxmi Dhungel +4 more
doaj +2 more sources