Results 31 to 40 of about 187,613 (226)

A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex [PDF]

, 2014
Elongator is a conserved, multi-protein complex discovered in Saccharomyces cerevisiae, loss of which confers a range of pleiotropic phenotypes. Elongator in higher eukaryotes is required for normal growth and development and a mutation in the largest ...
Bandau, Susanne, Stark, Michael J. R., Di Santo, Rachael   +2 more
core   +1 more source

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

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, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort   +14 more
doaj   +1 more source

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]

Journal of Clinical and Diagnostic Research, 2017
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro   +4 more
doaj   +1 more source

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

Biology Open, 2021
Elongator dysfunction is increasingly recognized as a contributor to multiple neurodevelopmental and neurodegenerative disorders including familial dysautonomia, intellectual disability, amyotrophic lateral sclerosis, and autism spectrum disorder ...
BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

Familial dysautonomia as an anaesthetic hazard [PDF]

Canadian Anaesthetists’ Society Journal, 1965
Familial dysautonomia is described as presented in the literature and as it appeared in a young girl who required six anaesthetics for major surgical procedures. Intravenous thiopental was used for induction and invariably caused a fairly sharp drop in blood pressure. A technique of light anaesthesia with nitrous oxide and oxygen was quite satisfactory
openaire   +2 more sources

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia. [PDF]

PLoS ONE, 2010
BACKGROUND: Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20.
Nathalie Boone, Béatrice Loriod, Aurélie Bergon, Oualid Sbai, Christine Formisano-Tréziny, Jean Gabert, Michel Khrestchatisky, Catherine Nguyen, François Féron, Felicia B Axelrod, El Chérif Ibrahim   +10 more
doaj   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons. [PDF]

PLoS ONE, 2014
A splicing mutation in the ikbkap gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS).
Anastasia Abashidze, Veronica Gold, Yaron Anavi, Hayit Greenspan, Miguel Weil   +4 more
doaj   +1 more source

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
doaj   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source