Results 61 to 70 of about 1,253 (161)

MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia

Disease Models & Mechanisms, 2016
Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
doaj   +1 more source

Aspergillus fumigatus Elongator complex subunit 3 affects hyphal growth, adhesion and virulence through wobble uridine tRNA modification.

PLoS Pathogens, 2022
The eukaryotic multisubunit Elongator complex has been shown to perform multiple functions in transcriptional elongation, histone acetylation and tRNA modification.
Yuanwei Zhang, Yamei Wang, Jialu Fan, Guoxing Zhu, Ling Lu   +4 more
doaj   +1 more source

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

Neurooncol Adv
europepmc   +2 more sources

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1454-1464, July 2025.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

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
openaire   +1 more source

Familial Dysautonomia: Mechanisms and Models

Genetics and Molecular Biology
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj   +3 more sources

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

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   +1 more source

Loss of Elp3 Impairs the Acetylation and Distribution of Connexin-43 in the Developing Cerebral Cortex

Frontiers in Cellular Neuroscience, 2017
The Elongator complex is required for proper development of the cerebral cortex. Interfering with its activity in vivo delays the migration of postmitotic projection neurons, at least through a defective α-tubulin acetylation.
Sophie Laguesse, Sophie Laguesse, Laurent Nguyen, Laurent Nguyen, Pierre Close, Pierre Close, Laura Van Hees, Laura Van Hees, Alain Chariot, Alain Chariot, Alain Chariot, Brigitte Malgrange, Brigitte Malgrange   +12 more
doaj   +1 more source

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors

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   +1 more source

Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct‐to‐consumer testing. However, little is known about young people's reactions to,
Haley N. Grimes, Michelle L. McGowan, Jessica A. Sinclair, Cynthia A. Prows, Ellen A. Lipstein, Melanie F. Myers   +5 more
wiley   +1 more source