Results 1 to 10 of about 1,253 (161)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia [PDF]

Annals of Clinical and Translational Neurology
Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can
Alejandra González-Duarte, Jana Narasimhan   +1 more
exaly   +6 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 ...
Alexander Hammermeister, Stark M J R, Raffael Schaffrath   +2 more
exaly   +13 more sources

Elp1 function in placode‐derived neurons is critical for proper trigeminal ganglion development [PDF]

Developmental Dynamics
Abstract Background The 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 ...
Lisa Taneyhill, Margaret Hines
exaly   +6 more sources

Elp1 is required for development of visceral sensory peripheral and central circuitry

DMM Disease Models and 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).
Frances Lefcort, Lynn George
exaly   +5 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.
Chung-Lin Jiang, Peter Chi, Liuh-Yow Chen   +2 more
exaly   +4 more sources

Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure. [PDF]

PLoS ONE
Familial 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, Giulia Romano, Danilo Licastro, Franco Pagani   +3 more
doaj   +5 more sources

Intracellular Delivery of a p21-Derived Cell Cycle Inhibitory Peptide Using Elastin-like Polypeptides Suppresses Glioblastoma Cell Proliferation [PDF]

Molecules
Glioblastoma, with a 5-year survival rate of just under 7.0%, is the most common form of brain cancer in adults. In this study, we evaluated the antiproliferative activity of the biopolymer p21-ELP1-Bac, a p21-derived peptide delivered via an elastin ...
Tiffany Quinn, Yumnaa Shaheen, Drazen Raucher   +2 more
doaj   +2 more sources

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia [PDF]

Molecular Therapy: Nucleic Acids
Familial 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, Krishnakanth Kondabolu, Emily G. Kirchner, Swanand Koli, Matthew Chagnon, Drenushe Krasniqi-Vanmeter, Max E. Stern, Jessica Bolduc, Giulia Romano, Franco Pagani, Luk H. Vandenberghe, Elisabetta Morini, Susan A. Slaugenhaupt   +12 more
doaj   +2 more sources

Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation [PDF]

Orphanet Journal of Rare Diseases
Familial Dysautonomia (FD, OMIM #223900) is a rare, life-threatening autosomal recessive neuropathy caused in 99.8% of patients by the c.2204 + 6T > C intronic mutation in the ELP1/IKAP gene. This substitution induces exon 20 skipping, leading to reduced
Laura Peretto, Mirko Pinotti, Dario Balestra   +2 more
doaj   +2 more sources

Genome-wide association study of paediatric bacteraemia and sepsisResearch in context [PDF]

EBioMedicine
Summary: Background: Sepsis is defined as a dysregulated host response to infection leading to organ dysfunction. It represents a major global health concern, particularly in childhood.
Dylan Lawless, Flavia Aurelia Hodel, Christian W. Thorball, Zhi Ming Xu, Alessandro Borghesi, Eric Giannoni, Johannes Trück, Martin Stocker, Klara M. Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian R. Kahlert, Giancarlo Natalucci, Christa Relly, Christoph Berger, Thomas Riedel, Christoph Aebi, Philipp Agyeman, Jacques Fellay, Luregn J. Schlapbach, Christoph Aebi, Philipp K.A. Agyeman, Walter Bär, Christoph Berger, Sara Bernhard-Stirnemann, Eric Giannoni, Ulrich Heininger, Christian R. Kahlert, Gabriel Konetzny, Antonio Leone, Giancarlo Natalucci, Anita Niederer-Loher, Klara M. Posfay-Barbe, Christa Relly, Thomas Riedel, Luregn J. Schlapbach, Martin Stocker   +37 more
doaj   +2 more sources