Results 21 to 30 of about 1,967 (171)

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

Hum Mol Genet
Mirko Pinotti, Katarzyna Rajkowska, Giulia Pianigiani   +2 more
europepmc   +4 more sources

Leishmania donovani elongator protein Elp3a plays a crucial role in modulating the parasite response to genotoxic stress [PDF]

Microbiology Spectrum
The eukaryotic elongator complex comprises six proteins Elp1–Elp6, with Elp3 being the catalytic subunit. In trypanosomatids, only Elp3 has been identifiable, and interestingly, these organisms have two Elp3 orthologs: Elp3a and Elp3b.
Arushi Khanna, Shilpa Rohra, Swati Saha
doaj   +2 more sources

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia

Disease Models & Mechanisms, 2018
Familial dysautonomia (FD) is an autosomal recessive disorder marked by developmental and progressive neuropathies. It is caused by an intronic point-mutation in the IKBKAP/ELP1 gene, which encodes the inhibitor of κB kinase complex-associated protein ...
Yumi Ueki, Veronika Shchepetkina, Frances Lefcort   +2 more
doaj   +2 more sources

An Elongator mouse model of ALS spotlights TDP-43 in the motor neuron nucleolus [PDF]

Communications Biology
Dysfunction of Elongator is associated with amyotrophic lateral sclerosis (ALS). Here, we describe mouse models in which either Elongator subunit 1(Elp1) or subunit 3 (Elp3) is selectively ablated in alpha motor neurons of the spinal cord.
Magge Snow, BreAnna Cameron, Renzie Pond, Rachel Trudell, Sara Snyder, Lauryn Torres-Hernandez, Devyn Deschamps, Danara Tulimaiau, Kiana Hawkinson, Morgan Russell, Danielle Horan, Joseph Walters, James H. Fox, Britni Arlian, Alain Chariot, Laurent Nguyen, Lynn George   +16 more
doaj   +2 more sources

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia

Stem Cell Research, 2021
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor, Tatiana Rabinski, Dor Zlotnik, Michal Shilian, Miguel Weil, Gad D. Vatine   +5 more
doaj   +2 more sources

Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report [PDF]

Rare Tumors
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems.
Yutong Liu, Xuejun Gao, Lianjing Cao, Jizhen Ren, Yuanxin Miao, Xia Cai   +5 more
doaj   +2 more sources

tRNA binding to Kti12 is crucial for wobble uridine modification by Elongator. [PDF]

Nucleic Acids Res
Gefördert durch den Publikationsfonds der Universität ...
Scherf D, Hammermeister A, Böhnert P, Burkard A, Helm M, Glatt S, Schaffrath R.   +6 more
europepmc   +3 more sources

MEDB-84. The French experience of ELP1-related medulloblastomas [PDF]

Neuro-Oncology, 2022
Abstract Medulloblastoma (MB), the most frequent embryonic tumor of the cerebellum is classified into four molecular subgroups (WNT group, SHH group, group 3 and group 4). Although the vast majority of MB are sporadic, predisposing genetic diseases have been described in rare WNT MB and more frequently in the SHH group.
Arnault Tauziède‐Espariat, Léa Guerrini‐Rousseau, Alexandre Perrier, Jacob Torrejón, Flavia Bernardi, Mathilde Filser, Pascale Varlet, Émilie De Carli, Anne Pagnier, Pierre Leblond, Cécile Faure‐Conter, François Doz, Anne‐Isabelle Bertozzi, L Mansuy, Marjolaine Willems, Gilles Palenzuela, Natacha Entz‐Werlé, Christine Bourneix, Lauren Hasty, Olivier Delattre, Thomas Blauwblomme, Kévin Beccaria, Alice Métais, Olivier Ayrault, Fabrice Chrétien, Franck Bourdeaut, Christelle Dufour, Julien Masliah‐Planchon   +27 more
openalex   +2 more sources

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors [PDF]

Frontiers in Oncology
BackgroundMedulloblastoma is the most common malignant brain tumor in children. Most cases are sporadic, but well characterized germline alterations in APC, ELP1, GPR161, PTCH1, SUFU, and TP53 predispose to medulloblastoma.
Donald Rees, Donald Rees, Donald Rees, D. Matthew Gianferante, D. Matthew Gianferante, Jung Kim, Theodora Stavrou, Gregory Reaman, Yadav Sapkota, M. Monica Gramatges, Lindsay M. Morton, Melissa M. Hudson, Gregory T. Armstrong, Neal D. Freedman, Wen-Yi Huang, W. Ryan Diver, Adriana Lori, Wen Luo, Belynda D. Hicks, Jia Liu, Amy A. Hutchinson, Alisa M. Goldstein, Lisa Mirabello   +22 more
doaj   +2 more sources

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system [PDF]

Scientific Reports
Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene.
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt   +12 more
doaj   +2 more sources