TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. [PDF]
, 2017 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the
Annu, Kavya +41 more
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ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cells- derived motoneurons [PDF]
, 2015 Patient-derived induced Pluripotent Stem Cells (iPSCs) provide an opportunity to study human diseases mainly in those cases where no suitable model systems are available.
Bozzoni, Irene +9 more
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Cognitive and Affective Symptoms of Amyotrophic Lateral Sclerosis: Clinical and Prognostic Aspects
Psychiatry InternationalAmyotrophic Lateral Sclerosis is a neurodegenerative disease characterized by progressive muscular impairment resulting in death, mainly from respiratory failure.
Leonardo Massoni
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Amyotrophic Lateral Sclerosis [PDF]
, 2019 The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
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Transcriptome-pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS. [PDF]
, 2018 Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive.
Batra, Ranjan +18 more
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Sporadic and hereditary amyotrophic lateral sclerosis (ALS)
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015 Genetic discoveries in ALS have a significant impact on deciphering molecular mechanisms of motor neuron degeneration. The identification of SOD1 as the first genetic cause of ALS led to the engineering of the SOD1 mouse, the backbone of ALS research, and set the stage for future genetic breakthroughs.
Ajroud-Driss, Senda, Siddique, Teepu
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FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
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Neuron-Specific HuR-Deficient Mice Spontaneously Develop Motor Neuron Disease [PDF]
, 2018 Human Ag R (HuR) is an RNA binding protein in the ELAVL protein family. To study the neuron-specific function of HuR, we generated inducible, neuron-specific HuR-deficient mice of both sexes.
Bai, Ying +10 more
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FEBS Letters, EarlyView.Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura +2 more
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Synaptic actions of amyotrophic-lateral-sclerosis-associated G85R-SOD1 in the squid giant synapse [PDF]
, 2020 © The Author(s), 2020. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Song, Y.
Song, Yuyu
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