ALS-linked protein disulfide isomerase variants cause motor dysfunction

This study identifies ER proteostasis imbalance as a risk factor for ALS, driving initial stages of the disease.
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Molecular Biology of Disease, Neuroscience Articles Source Type: research

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AbstractObjectiveTo assess the changes of muscle-related biomarkers at the early stage of amyotrophic lateral sclerosis, and to confirm these findings in an experimental animal model.MethodsThirty-nine subjects with sporadic amyotrophic lateral sclerosis and 20 healthy controls were enrolled and longitudinally evaluated. We evaluated serum creatine kinase and creatinine levels and appendicular lean soft-tissue mass using dual X-ray absorptiometry. The levels of biomarkers at early ALS stages were estimated using linear mixed models with unstructured correlation and random intercepts. We also analyzed the longitudinal chang...
Source: Journal of Neurology - Category: Neurology Source Type: research
Publication date: Available online 8 November 2019Source: Artificial Intelligence in MedicineAuthor(s): Wenping Tang, Aiqun Wang, S. Ramkumar, Radeep Krishna Radhakrishnan NairAbstractParalyzed patients were increasing day by day. Some of the neurodegenerative diseases like amyotrophic lateral sclerosis, Brainstem Leison, Stupor and Muscular dystrophy affect the muscle movements in the body. The affected persons were unable to migrate. To overcome from their problem they need some assistive technology with the help of bio signals. Electrooculogram (EOG) based Human Computer Interaction (HCI) is one of the technique used in...
Source: Artificial Intelligence in Medicine - Category: Bioinformatics Source Type: research
Altered proteostasis, endoplasmic reticulum (ER) stress, abnormal unfolded protein response (UPR), mitochondrial dysfunction and autophagy impairment are interconnected events, which contribute to the pathogenesis of amyotrophic lateral sclerosis (ALS)/fro...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
We describe two siblings with a novel OPTN mutation and atypical parkinsonian phenotype.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Abstract The complexity of neurodegeneration restricts the ability to understand and treat the neurological disorders affecting millions of people worldwide. Therefore, there is an unmet need to develop new and more effective therapeutic strategies to combat these devastating conditions and that will only be achieved with a better understanding of the biological mechanism associated with disease conditions. Recent studies highlight the role of DNA damage, particularly, DNA double-strand breaks (DSBs), in the progression of neuronal loss in a broad spectrum of human neurodegenerative diseases. This is not unexpecte...
Source: Chromosome Research - Category: Genetics & Stem Cells Authors: Tags: Chromosome Res Source Type: research
Volume 20, Issue sup1, November 2019, Page 309-326 .
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Source Type: research
Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isolated sporadic cases (sALS). At least 186 different mutations in the SOD1 gene have been reported to date. The possibility of a single founder and separate founders have been investigated for D90A (p.D91A) and A4V (p.A5V), the most common mutations worldwide. High-throughput single nucleotide polymorphism genotyping studies have suggested two founders for A4V (one for the Am...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Volume 20, Issue sup1, November 2019, Page 1-99 .
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Source Type: research
Volume 20, Issue sup1, November 2019, Page 100-100 .
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Source Type: research
Volume 20, Issue sup1, November 2019, Page 101-113 .
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Source Type: research
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