Molecular mechanisms linking ALS/FTD and psychiatric disorders, the potential effects of lithium - Limanaqi F, Biagioni F, Ryskalin L, Busceti CL, Fornai F.

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

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Publication date: Available online 4 December 2019Source: Stem Cell ResearchAuthor(s): E.I. Ustyantseva, S.P. Medvedev, A.S. Vetchinova, S.N. Illarioshkin, S.V. Leonov, S.M. ZakianAbstractAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by death of motor neurons. To date, neither etiology nor pathogenesis of ALS are known, which leads to the absence of an effective treatment strategy. ALS patient-specific induced pluripotent stem cells (iPSCs) represent an excellent tool for the disease study. We obtained iPSCs line from peripheral blood mononuclear cells of the patient with homozygous Asp90...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Alternating motion rate (AMR) is a standard measure often included in neurological examinations to assess orofacial neuromuscular integrity. AMR is typically derived from recordings of patients producing repetitions of a single syllable as fast and clear as possible on one breath. Because the task places high demands on oromotor performance, particularly articulatory speed, AMRs are widely considered to be tests of maximum performance and, therefore, likely to reveal underlying neurologic deficits. Despite decades of widespread use, biomechanical studies have shown that speakers often circumvent the presumed speed challeng...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease that has been linked to defective DNA repair. Many familial ALS patients harbor autosomal dominant mutations in the gene encoding the ...
Source: Molecular Brain - Category: Neuroscience Authors: Tags: Micro report Source Type: research
Source: Neuroscience Bulletin - Category: Neuroscience Source Type: research
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
The Journal of Physical Chemistry LettersDOI: 10.1021/acs.jpclett.9b02868
Source: The Journal of Physical Chemistry Letters - Category: Chemistry Authors: Source Type: research
ConclusionsWith the aggravation of population aging and the rapid growth of economy, developing regions following the development pattern of the developed regions may suffer rising ALS prevalence and incidence which may increase their disease burden as well. These data highlight the need for research into underlying mechanism and innovations in health-care systems.
Source: Journal of Neurology - Category: Neurology Source Type: research
Abstract Macroautophagy/autophagy is implicated in age-dependent neurodegenerative diseases, including amyotrophic lateral sclerosis and Parkinson, Huntington and Alzheimer diseases, suggesting that an age-related decline in neuronal autophagy may contribute to the onset of neurodegeneration. We identified a significant decline in the rate of axonal autophagosome formation in neurons cultured from aged mice, accompanied by a striking increase in the accumulation of autophagic structures with aberrant morphologies. Using live-cell microscopy, we identified the specific step in autophagosome formation that becomes i...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
Exonic DNA sequence variants in the Tbk1 gene associate with both sporadic and familial amyotrophic lateral sclerosis (ALS). Here, we examine functional defects in 25 missense TBK1 mutations, focusing on kinase activity and protein–protein interactions. We identified kinase domain (KD) mutations that abolish kinase activity or display substrate-specific defects in...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Eukaryotic cells contain a variety of RNA-protein macrocomplexes termed RNP granules. Different types of granules share multiple protein components; however, the crosstalk between spatially separated granules remains unaddressed. Paraspeckles and stress granules (SGs) are prototypical RNP granules localized exclusively in the nucleus and cytoplasm, respectively. Both granules are implicated in human diseases, such as amyotrophic lateral sclerosis. We characterized the composition of affinity-purified paraspeckle-like structures and found a significant overlap between the proteomes of paraspeckles and SGs. We further show t...
Source: Journal of Cell Biology - Category: Cytology Authors: Tags: Disease, Cell Signaling, RNA Biology, Biochemistry Articles Source Type: research
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