Results 81 to 90 of about 1,253 (161)
RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation
Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa +2 more
wiley +1 more source
Toxins, 2017 Saccharomyces cerevisiae cells are killed by zymocin, a tRNase ribotoxin complex from Kluyveromyces lactis, which cleaves anticodons and inhibits protein synthesis.
Constance Mehlgarten +11 more
doaj +1 more source
Germline loss-of-function (LOF) variants in Elongator acetyltransferase complex subunit 1 (ELP1) are the most prevalent predisposing genetic events observed in medulloblastoma (MB), accounting for 30% of the Sonic hedgehog (SHH) 3 subtype.
Janke, Laura +36 more
core +1 more source
Enhancement of Bac-ELP1-H1 Tumor Uptake by Thermal Targeting.
, 2013 Following IV administration of Alexa750-labeled Bac-ELP1-H1 or Bac-ELP2-H1 with or without hyperthermia, tumor and organ levels were determined by ex vivo whole organ fluorescence imaging. A. Representative images of brains from each treatment group.
Gene L. Bidwell III (277232) +5 more
core +1 more source
, 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
Miguel Weil (222465) +4 more
core +1 more source
, 2023 The drug loading capacity of an engineered lipoprotein (eLP1) and the colloidal stability of drug-loaded eLP1s were assessed with 12 drugs with different charges/hydrophobicities.
Tatsuya Murakami (1495675) +3 more
core +1 more source
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 Geneteuropepmc +2 more sources
Summary of phosphorylation sites identified in Elp1 and other Elongator subunits.
, 2015 1For sites identified by mass spectrometry: wt, identified in Elongator from wild-type yeast cells; k, identified in Elongator from a kti12Δ strain; s, identified in Elongator from a sit4Δ mutant.2Phosphorylation on these two adjacent sites cannot be ...
Wael Abdel-Fattah (682306) +9 more
core +1 more source
, 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
Miguel Weil (222465) +4 more
core +1 more source
Effect on Elongator function of phosphorylation site mutations in the C-terminal domain of Elp1.
, 2015 All strains were based on WAY034 (elp1Δ; panel B), YRDS119 (elp1Δ [pAE1]; panel C) or SBY138 (elp1Δ his3Δ1::pSB3; panel D) transformed with YCplac111, YCplac111-ELP1-6HA (wild-type) or mutant derivatives carrying mutations in ELP1 as shown.
Wael Abdel-Fattah (682306) +9 more
core +1 more source