Results 41 to 50 of about 1,967 (171)

Erratum to: Evolutionary evidence precludes ELP1 as a high-penetrance pediatric cancer predisposition syndrome gene [PDF]

Neuro-Oncology Advances

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Decision letter: Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

, 2021

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Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target

Cancer Cell
Germline 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. The mechanism(s) by which germline ELP1 deficiency provokes SHH-MB pathogenesis remain unknown.
Shiekh Tanveer Ahmad, Yiran Li, Jesús García-López, Brian Gudenas, Jennifer Hadley, Leena Paul, Stephanie Wu, Alaa Refaat, Marija Kojic, Melissa Batts, Taha Soliman, Aaron Pitre, Frederik Arnskötter, Frédérique Zindy, Alun Jones, Nathaniel Twarog, Anand Mayasundari, Brandon Bianski, Christopher L. Tinkle, Abbas Shirinifard, Laura J. Janke, Meifen Lu, Sara A. Lewis, Arzu Onar‐Thomas, Stefan M. Pfister, Amar Gajjar, Stuart N. Baker, Martine F. Roussel, Zoran Ranković, Giles Robinson, Brent A. Orr, Brandon J. Wainwright, Anang A. Shelat, Sebastian M. Waszak, Lena M Kutscher, Hong Lin, Paul A. Northcott   +36 more
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Editor's evaluation: Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

, 2021
Marianne Bronner‐Fraser
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<i>ELP1</i>, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis. [PDF]

J Neurosci
Chaverra M, Cheney AM, Scheel A, Miller A, George L, Schultz A, Henningsen K, Kominsky D, Walk H, Kennedy WR, Kaufmann H, Walk S, Copié V, Lefcort F.   +13 more
europepmc   +3 more sources

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model [PDF]

Human Molecular Genetics, 2018
Abstract Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T&gt;C) that negatively affects the definition of exon 20 in the elongator complex protein 1 gene (ELP1 also known as IKBKAP). This substitution modifies the 5′ splice site and, in combination with regulatory
Donadon, I., Pinotti, M., Rajkowska, K., Pianigiani, G., Barbon, E., Morini, E., Motaln, H., Rogelj, B., Mingozzi, F., Slaugenhaupt, S. A., Pagani, F.   +10 more
openaire   +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, Aviel Even, Hila Gast, Laurent Nguyen, Miguel Weil   +4 more
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TMOD-19. GERMLINEELP1 DEFICIENCY SENSITIZES CEREBELLAR GRANULE NEURON PROGENITORS TO SHH MEDULLOBLASTOMA [PDF]

Neuro-Oncology
Abstract Germline loss-of-function (LOF) variants in Elongator complex protein 1 (ELP1) are the most prevalent predisposing genetic events observed in medulloblastoma (MB), accounting for 30% of the Sonic Hedgehog 3 subtype (SHH-3).
Shiekh Tanveer Ahmad, Jesús García-López, Yiran Li, Jennifer Hadley, Leena Paul, Brian Gudenas, Melissa Batts, Taha Soliman, Aaron Pitre, Marija Kojic, F. Manz, Frédérique Zindy, Alun Jones, Anand Mayasundari, Brandon Bianski, Christopher L. Tinkle, Abbas Shirinifard, Laura J. Janke, Meifen Lu, Arzu Onar‐Thomas, Stefan M. Pfister, Amar Gajjar, Suzanne J. Baker, Martine F. Roussel, Zoran Ranković, Giles Robinson, Brent A. Orr, Brandon J. Wainwright, Lena M Kutscher, Sebastian M. Waszak, Hong Lin, Paul A. Northcott   +31 more
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Mass Production of a Recombinant Baculovirus Expressing CpBV-ELP1 and Control of the Beet Armyworm, Spodoptera exigua [PDF]

The Korean Journal of Pesticide Science, 2015
Abstract Cotesia plutellae bracovirus (CpBV) is a polydnavirus symbiotic to C. plutellae parasitizingyoung larvae of the diamondback moth, Plutella xylostella. Several CpBV genes play important roles insuppressing immune responses of the parasitized larvae.
Arum Park, Yonggyun Kim
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MBRS-24. FUNCTIONAL CHARACTERIZATION OF IKBKAP/ELP1 AS A NOVEL SHH MEDULLOBLASTOMA PREDISPOSITION GENE [PDF]

Neuro-Oncology, 2020
Abstract Medulloblastoma (MB), a common malignant pediatric brain tumor, comprises at least four distinct molecular entities: WNT, SHH, Group 3, and Group 4. SHH-MB is driven by aberrant activation of the Sonic hedgehog (SHH) pathway in granule neuron progenitors (GNPs) and is associated with hereditary cancer predisposition syndromes ...
Jesús García López, Lena M Kutscher, Marija Kojic, Brian Gudenas, Kyle Smith, Jennifer Hadley, Amar Gajjar, Giles Robinson, Stefan M. Pfister, Brandon J. Wainwright, Daisuke Kawauchi, Paul A. Northcott   +11 more
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