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Amyotrophic Lateral Sclerosis - Astrophysics Data System

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Last Updated: 27 October 2022

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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

Here we developed both Drosophila and mammalian models of this extended hexanucleotide repeat, and found that the increased GGCC repeat RNA expression was sufficient to cause neurogenesis. Pur u03b1 as the RNA-binding protein of rGGGGCC repeats, and we found that Pur u03b1 and rGGGGCC repeats interact in vitro and in vivo in a sequence-specific manner that is conserved between mammals and Drosophila.

Source link: https://ui.adsabs.harvard.edu/abs/2013PNAS..110.7778X/abstract


Rate of speech decline in individuals with amyotrophic lateral sclerosis

Although speech has slowed in some people with amyotrophic lateral sclerosis, longitudinal changes in speech have rarely been reported. The study sought to determine the time to speech loss from symptom onset in 166 people with ALS, including disease onset site, sex, and age at onset in 166 people with ALS. However, the time to speech loss was 23 months based on speaking rate 120 and 32 months, 85% in people with ALS-bulbar onset.

Source link: https://ui.adsabs.harvard.edu/abs/2022NatSR..1215713E/abstract


Common dynamical signatures of familial amyotrophic lateral sclerosis-associated structurally diverse Cu, Zn superoxide dismutase mutants

More than 100 genetically distinct point mutations leading to aggregation of the dimeric enzyme Cu, Zn superoxide dismutase have been implicated in familial amyotrophic lateral sclerosis. Although SOD1 dimer dissociation is a known precursor for its aggregation, the common underlying mechanism for numerous FALS mutations leading to aggregation is not fully understood. We discover that mutation-induced disruption of dynamic coupling between monomers is a common occurrence of mutations in wild-type SOD1 and three structurally diverse FALS mutants. We investigate the residue-residue interaction network in SOD1 to reduce coupling, which is independent of the effects of the SOD1 mutation's effect on global SOD1 stability. Our findings show that independent of the effect on protein stability, improved protein dynamics, due to long-range communication within the company, may be able to explain mutant SOD1 aggregation in FALS.

Source link: https://ui.adsabs.harvard.edu/abs/2006PNAS..103.3147K/abstract


A new method for estimating under-recruitment of a patient registry: a case study with the Ohio Registry of Amyotrophic Lateral Sclerosis

In Ohio, we created a disease registry to track all incident amyotrophic lateral sclerosis patients diagnosed between 2016 and 2018. To develop a Poisson regression model for estimating case numbers in target counties with potential unrecruited cases, we used three statistical tools to find reference counties with normal case-population relationships in order to develop a Poisson regression model for estimating case counts in target counties that may have unrecruited cases. For the total, from 0. 7971 to 0. 9292 for females, and from 0. 6862 to 0. 9292 for males, the correlation between the case count and mortality rate increased for target counties, including estimated unrecruited cases.

Source link: https://ui.adsabs.harvard.edu/abs/2022NatSR..1214721L/abstract


Glutamate carboxypeptidase II inhibition protects motor neurons from death in familial amyotrophic lateral sclerosis models

Both ALS and FALS have been implicated with glutamate excitotoxicity as a cause of MN death. Because of the resultant decrease in glutamate levels, the GCPII inhibitors prevented MN cell death in both of these systems, according to reports. GCPII inhibition may be a new therapeutic target for the treatment of ALS.

Source link: https://ui.adsabs.harvard.edu/abs/2003PNAS..100.9554G/abstract


Correlation of weight and body composition with disease progression rate in patients with amyotrophic lateral sclerosis

This research intends to determine the nutritional status of Chinese patients with amyotrophic lateral sclerosis (AMYotrophic lateral sclerosis) and disease progression. Patients with ALS had a significantly lower BMI than controls, but no significant difference was made in body composition. At diagnosis and follow-up, respectively, weight loss occurred in 66 and 52 patients. Patients with significant weight loss at diagnosis had significantly lower BMI, fat mass, and FM in limbs and trunk than those without. Following the disease progression rate at follow-up, multivariate linear regression revealed that FFM and weight at follow-up were independently correlated with disease progression rate at follow-up. Weight loss is a common symptom in ALS patients, as well as muscle and fat accumulation during the disease course. Body composition may be a determining factor in diagnosis of ALS patients and provide recommendations for diet management.

Source link: https://ui.adsabs.harvard.edu/abs/2022NatSR..1213292L/abstract


Plasma taurine is an axonal excitability-translatable biomarker for amyotrophic lateral sclerosis

Although many body fluid biomarkers for amyotrophic lateral sclerosis have been reported, no biomarkers specifically reflecting abnormalities in axonal excitability indices have been established yet. In addition, electrophysiological investigations of motor nerve axonal excitability in all ALS patients were conducted. The top four metabolites' analysis of the receiver operating characteristic curve indicated high diagnostic accuracy in the ALS group in comparison to the control group. In the study, no significant effects of diabetes mellitus and therapy on this relationship were found. Plasma taurine, in turn, is a potential novel axonal excitability-translatable biomarker for ALS.

Source link: https://ui.adsabs.harvard.edu/abs/2022NatSR..12.9155N/abstract


Amyotrophic lateral sclerosis-linked mutations increase the viscosity of liquid-like TDP-43 RNP granules in neurons

Mutations in TAR-DNA binding protein 43, an RNA-binding protein with multiple roles in RNA metabolism, can lead to amyotrophic lateral sclerosis, but it's unclear how mutations in RNA biology cause disease. TDP-43 WT RNP granules have varying biophysical characteristics depending on their granular location, whereas granules produced by ALS-linked mutant TDP-43 are more viscous and display disruptioned axonal transport dynamics.

Source link: https://ui.adsabs.harvard.edu/abs/2017PNAS..114E2466G/abstract


Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis

Glycosphingolipids are a heterogeneous group of membrane lipids produced by the covalent linking of a glycan moiety to ceramide. We find that ALS patients and model mice have disease-related changes in spinal cord glycosphingolipids levels and enzymes that regulate their metabolism, according to our report.

Source link: https://ui.adsabs.harvard.edu/abs/2015PNAS..112.8100D/abstract

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions