Abl kinase-mediated FUS Tyr526 phosphorylation alters nucleocytoplasmic FUS localization in FTLD-FUS [PDF]
Brain, 2023 Nuclear to cytoplasmic mislocalization and aggregation of multiple RNA-binding proteins (RBPs), including FUS, are the main neuropathological features of the majority of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal lobular degeneration
Motaln, Helena +13 more
core +3 more sources
Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation
Molecular Neurodegeneration, 2021 Mutations in FUS, an RNA-binding protein involved in multiple steps of RNA metabolism, are associated with the most severe forms of amyotrophic lateral sclerosis (ALS).
Inmaculada Sanjuan-Ruiz +14 more
doaj +2 more sources
ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. [PDF]
PLoS Genetics, 2013 The gene encoding a DNA/RNA binding protein FUS/TLS is frequently mutated in amyotrophic lateral sclerosis (ALS). Mutations commonly affect its carboxy-terminal nuclear localization signal, resulting in varying deficiencies of FUS nuclear localization ...
Yueqin Zhou +4 more
doaj +2 more sources
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation [PDF]
Acta Neuropathologica Communications, 2015 INTRODUCTION: Mutations in the FUS gene have been shown to be a rare cause of amyotrophic lateral sclerosis (ALS-FUS) and whilst well documented clinically and genetically there have been relatively few neuropathological studies.Recent work suggested a ...
King, A. +15 more
core +5 more sources
Frameshift peptides alter the properties of truncated FUS proteins in ALS-FUS [PDF]
Molecular Brain, 2020 Mutations in the FUS gene cause a subset of ALS cases (ALS-FUS). The majority of FUS mutations are missense mutations affecting the nuclear localisation signal (NLS) of FUS.
Haiyan An +3 more
doaj +2 more sources
IEEE Access, 2023 In tokamak and other fusion devices, magnetic control is the main tool that allows to regulate the plasma current, position and shape; it is in charge of actuating the desired plasma current waveform, steering the plasma position to a given set point and
Domenica Corona +6 more
doaj +1 more source
Heterogeneidad del tratamiento para cándida parapsilosis en endocarditis micótica de válvula nativa
Repertorio de Medicina y Cirugía, 2021 Las infecciones por cándida en el ámbito intrahospitalario han ido en ascenso en las últimas décadas en especial en las unidades de cuidado intensivo (UCI), dado el uso cada vez más frecuente de antibióticos de amplio espectro y de procedimientos ...
Gary Andrés Baquero +4 more
doaj +1 more source
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention [PDF]
, 2020 Mutations in the RNA-binding protein FUS cause amyotrophic lateral sclerosis (ALS), a devastating neurodegenerative disease. FUS plays a role in numerous aspects of RNA metabolism, including mRNA splicing.
Jarvis, S +76 more
core +4 more sources
Литьë и металлургия, 2020 The article describes the requirements for the lubricant used in injection molding of non-ferrous alloys. A methodology for conducting research to determine the sedimentation stability of a prepared lubricant is presented, as well as the results of a ...
A. A. Pivovarchyk +2 more
doaj +1 more source
Genetics of familial amyotrophic lateral sclerosis
Бюллетень сибирской медицины, 2021 To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in
A. V. Savinova +2 more
doaj +1 more source