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Amyotrophic lateral sclerosis

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https://www.readbyqxmd.com/read/29140847/overexpressed-wild-type-superoxide-dismutase-1-exhibits-amyotrophic-lateral-sclerosis-related-misfolded-conformation-in-induced-pluripotent-stem-cell-derived-spinal-motor-neurons
#1
Kenichi Komatsu, Keiko Imamura, Hirofumi Yamashita, Jean-Pierre Julien, Ryosuke Takahashi, Haruhisa Inoue
Amyotrophic lateral sclerosis (ALS) is a late-onset, fatal disorder in which motor neurons selectively degenerate. Superoxide dismutase 1 (SOD1) was found to be a causative gene of familial ALS, and mutant SOD1 transgenic mice recapitulated ALS phenotypes. Analysis of these mice showed accumulation of misfolded SOD1 protein in motor neurons. Misfolded SOD1 accumulation was found in spinal motor neurons of both familial ALS patients with the SOD1 mutation and sporadic ALS patients. However, it is unclear what condition causes wild-type SOD1 misfolding in patients without the SOD1 mutation...
November 14, 2017: Neuroreport
https://www.readbyqxmd.com/read/29140459/rbm45-competes-with-hdac1-for-binding-to-fus-in-response-to-dna-damage
#2
Juanjuan Gong, Min Huang, Fengli Wang, Xiaolu Ma, Hongmei Liu, Yingfeng Tu, Lingyu Xing, Xuefei Zhu, Hui Zheng, Junjie Fang, Xiaoling Li, Qiaochu Wang, Jiuqiang Wang, Zhongshuai Sun, Xi Wang, Yun Wang, Caixia Guo, Tie-Shan Tang
DNA damage response (DDR) is essential for genome stability and human health. Recently, several RNA binding proteins (RBPs), including fused-in-sarcoma (FUS), have been found unexpectedly to modulate this process. The role of FUS in DDR is closely linked to the pathogenesis of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Given that RBM45 is also an ALS-associated RBP, we wondered whether RBM45 plays any function during this process...
November 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29137922/extracellular-vesicles-in-neurodegenerative-diseases
#3
REVIEW
Tommaso Croese, Roberto Furlan
Extracellular vesicles (EVs) are released by all neural cells, including neurons, oligodendrocytes, astrocytes, and microglia. The lack of adequate technology has not halted neuroscientists from investigating EVs as a mean to decipher neurodegenerative disorders, still in search of comprehensible pathogenic mechanisms and efficient treatment. EVs are thought to be one of ways neurodegenerative pathologies spread in the brain, but also one of the ways the brain tries to displace toxic proteins, making their meaning in pathogenesis uncertain...
November 11, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/29137817/beyond-als-and-ftd-the-phenotypic-spectrum-of-tbk1-mutations-includes-psp-like-and-cerebellar-phenotypes
#4
Carlo Wilke, Jonathan Baets, Jan L De Bleecker, Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe, Matthis Synofzik
Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains to be elucidated. Using next-generation panel-sequencing of neurodegenerative disease genes, we identified a TBK1 index patient presenting with a progressive supranuclear palsy-like syndrome. Consecutively, we screened the whole-exome sequencing data of 439 index subjects presenting with various neurodegenerative syndromes outside the ALS-FTD spectrum for TBK1 mutations...
October 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29136131/characteristic-increases-in-eeg-connectivity-correlate-with-changes-of-structural-mri-in-amyotrophic-lateral-sclerosis
#5
Bahman Nasseroleslami, Stefan Dukic, Michael Broderick, Kieran Mohr, Christina Schuster, Brighid Gavin, Russell McLaughlin, Mark Heverin, Alice Vajda, Parameswaran M Iyer, Niall Pender, Peter Bede, Edmund C Lalor, Orla Hardiman
Amyotrophic lateral sclerosis (ALS) is a terminal progressive adult-onset neurodegeneration of the motor system. Although originally considered a pure motor degeneration, there is increasing evidence of disease heterogeneity with varying degrees of extra-motor involvement. How the combined motor and nonmotor degeneration occurs in the context of broader disruption in neural communication across brain networks has not been well characterized. Here, we have performed high-density crossectional and longitudinal resting-state electroencephalography (EEG) recordings on 100 ALS patients and 34 matched controls, and have identified characteristic patterns of altered EEG connectivity that have persisted in longitudinal analyses...
November 9, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29134445/ptosis-and-bulbar-onset-an-unusual-phenotype-of-familial-als
#6
Fabiola De Marchi, L Corrado, E Bersano, M F Sarnelli, V Solara, S D'Alfonso, R Cantello, L Mazzini
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons that usually spare the oculomotor nerves. Here, we describe a case of two siblings with a familial bulbar-onset ALS both with ptosis manifested at the onset of the disease.
November 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29134320/artificial-intelligence-in-neurodegenerative-disease-research-use-of-ibm-watson-to-identify-additional-rna-binding-proteins-altered-in-amyotrophic-lateral-sclerosis
#7
Nadine Bakkar, Tina Kovalik, Ileana Lorenzini, Scott Spangler, Alix Lacoste, Kyle Sponaugle, Philip Ferrante, Elenee Argentinis, Rita Sattler, Robert Bowser
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no effective treatments. Numerous RNA-binding proteins (RBPs) have been shown to be altered in ALS, with mutations in 11 RBPs causing familial forms of the disease, and 6 more RBPs showing abnormal expression/distribution in ALS albeit without any known mutations. RBP dysregulation is widely accepted as a contributing factor in ALS pathobiology. There are at least 1542 RBPs in the human genome; therefore, other unidentified RBPs may also be linked to the pathogenesis of ALS...
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29133694/manganese-in-manganism-parkinson-s-disease-huntington-s-disease-amyotrophic-lateral-sclerosis-and-batten-disease-a-narrative-review
#8
REVIEW
Owen Proudfoot
The collective evidence to date suggests that environmental exposure to excessive amounts of manganese (Mn) can cause a neurodegenerative condition known as manganism. It is now also relatively clear that Mn is involved in the pathogenesis of Alzheimer's disease and at least some prion diseases. The potential involvement of Mn in a panel of other neurodegenerative conditions including Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease has been suggested and investigated, but the results to date are somewhat inconclusive...
November 2017: Neurology India
https://www.readbyqxmd.com/read/29132389/advances-challenges-and-future-directions-for-stem-cell-therapy-in-amyotrophic-lateral-sclerosis
#9
REVIEW
Yuri Ciervo, Ke Ning, Xu Jun, Pamela J Shaw, Richard J Mead
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition where loss of motor neurons within the brain and spinal cord leads to muscle atrophy, weakness, paralysis and ultimately death within 3-5 years from onset of symptoms. The specific molecular mechanisms underlying the disease pathology are not fully understood and neuroprotective treatment options are minimally effective. In recent years, stem cell transplantation as a new therapy for ALS patients has been extensively investigated, becoming an intense and debated field of study...
November 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29131982/multimodal-mri-quantification-of-the-common-neurostructural-bases-within-the-ftd-als-continuum
#10
Chiara Crespi, Alessandra Dodich, Stefano F Cappa, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Chiara Cerami
The continuum hypothesis linking the behavioral variant of frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis (ALS) is supported by clinical, pathological, genetic, and neuroimaging evidence. In the present multimodal magnetic resonance study, we characterized the site and extent of shared neurostructural changes in gray and white matter in 20 bvFTD and 19 ALS patients without dementia. We found an overlap of macrostructural and microstructural damage in both patient groups compared with healthy controls, involving the right orbital and the bilateral anterior cingulate cortices, the corticospinal tract and corpus callosum...
September 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29131108/genetic-and-pathological-assessment-of-hnrnpa1-hnrnpa2-b1-and-hnrnpa3-in-familial-and-sporadic-amyotrophic-lateral-sclerosis
#11
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29131016/focal-transplantation-of-aberrant-glial-cells-carrying-the-sod1g93a-mutation-into-rat-spinal-cord-induces-extensive-gliosis
#12
Sofía Ibarburu, Emiliano Trias, Natalia Lago, Hugo Peluffo, Romina Barreto-Núñez, Valentina Varela, Joseph S Beckman, Luis Barbeito
OBJECTIVE: We aimed to determine the potential of aberrant glial cells (AbAs) isolated from the spinal cord of adult SOD1G93A symptomatic rats to induce gliosis and neuronal damage following focal transplantation into the lumbar spinal cord of wild-type rats. METHODS: AbAs were obtained from the spinal cords of SOD1G93A symptomatic rats. One hundred thousand cells were injected using a glass micropipette into the lumbar spinal cords (L3-L5) of syngeneic wild-type adult rats...
November 1, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/29129529/profilin-directly-promotes-microtubule-growth-through-residues-mutated-in-amyotrophic-lateral-sclerosis
#13
Jessica L Henty-Ridilla, M Angeles Juanes, Bruce L Goode
Profilin is an abundant actin monomer-binding protein with critical actin regulatory roles in vivo [1, 2]. However, profilin also influences microtubule dynamics in cells, which may be mediated in part through its interactions with formins that in turn bind microtubules [3, 4]. Specific residues on human profilin-1 (PFN1) are mutated in patients with amyotrophic lateral sclerosis (ALS) [5, 6]. However, the observation that some ALS-linked PFN1 mutants fail to alter cellular actin organization or dynamics [5-8] or in vitro actin-monomer affinity [9] has been perplexing, given that profilin is best understood as an actin regulator...
November 1, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29128630/association-analysis-of-snp-rs11868035-in-srebf1-with-sporadic-parkinson-s-disease-sporadic-amyotrophic-lateral-sclerosis-and-multiple-system-atrophy-in-a-chinese-population
#14
Xiao Qin Yuan, Bei Cao, Ying Wu, Yong Ping Chen, Qian Qian Wei, Ru Wei Ou, Jing Yang, Xue Ping Chen, Bi Zhao, Wei Song, Hui Fang Shang
BACKGROUND: The etiology of neurodegenerative disease remains unclear. Recently, SNP rs11868035, located in an intron of the sterol regulatory element binding factor (SREBF1) gene, was found to be associated with Parkinson's disease (PD) in a large European population in a genome-wide association study. To examine the possible genetic association of rs11868035 with sporadic PD, sporadic amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) in a Chinese population, we conducted this large case-control study...
November 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29128563/matrin-3-is-a-component-of-neuronal-cytoplasmic-inclusions-of-motor-neurons-in-sporadic-amyotrophic-lateral-sclerosis
#15
Mikiko Tada, Hiroshi Doi, Shigeru Koyano, Shun Kubota, Ryoko Fukai, Shunta Hashiguchi, Noriko Hayashi, Yuko Kawamoto, Misako Kunii, Kenichi Tanaka, Keita Takahashi, Yuki Ogawa, Ryo Iwata, Shoji Yamanaka, Hideyuki Takeuchi, Fumiaki Tanaka
Mutations in the matrin 3 (MATR3) gene have been identified as a cause of familial amyotrophic lateral sclerosis, but the involvement of MATR3 protein in sporadic amyotrophic lateral sclerosis (SALS) pathology has not been fully assessed. Here, we immunohistochemically analyzed MATR3 pathology in the spinal cords of SALS and control autopsies. MATR3 immunostaining of the motor neuron nuclei revealed two distinct patterns, mild and strong staining. There were no differences in the ratio of mild versus strong nuclear staining between the SALS and control cases...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29128334/a-map-of-human-mitochondrial-protein-interactions-linked-to-neurodegeneration-reveals-new-mechanisms-of-redox-homeostasis-and-nf-%C3%AE%C2%BAb-signaling
#16
Ramy H Malty, Hiroyuki Aoki, Ashwani Kumar, Sadhna Phanse, Shahreen Amin, Qingzhou Zhang, Zoran Minic, Florian Goebels, Gabriel Musso, Zhuoran Wu, Hosam Abou-Tok, Michael Meyer, Viktor Deineko, Sandy Kassir, Vishaldeep Sidhu, Matthew Jessulat, Nichollas E Scott, Xuejian Xiong, James Vlasblom, Bhanu Prasad, Leonard J Foster, Tiziana Alberio, Barbara Garavaglia, Haiyuan Yu, Gary D Bader, Ken Nakamura, John Parkinson, Mohan Babu
Mitochondrial protein (MP) dysfunction has been linked to neurodegenerative disorders (NDs); however, the discovery of the molecular mechanisms underlying NDs has been impeded by the limited characterization of interactions governing MP function. Here, using mass spectrometry (MS)-based analysis of 210 affinity-purified mitochondrial (mt) fractions isolated from 27 epitope-tagged human ND-linked MPs in HEK293 cells, we report a high-confidence MP network including 1,964 interactions among 772 proteins (>90% previously unreported)...
November 7, 2017: Cell Systems
https://www.readbyqxmd.com/read/29128155/motor-neuron-disease-in-inherited-neurometabolic-disorders
#17
REVIEW
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/29126546/changes-in-lingual-alveolar-contact-pressure-during-speech-over-six-months-in-amyotrophic-lateral-sclerosis
#18
Jeff Searl, Stephanie Knollhoff
PURPOSE: This study compared lingual-alveolar contact pressures during consonant (LACP-Sp) production between adults with and without amyotrophic lateral sclerosis (ALS) over three visits within six months and assessed the relationship between LACP-Sp and speech intelligibility. METHODS: Ten people with ALS and nine without read sentences with lingual-alveolar consonants embedded as LACP-Sp was recorded. Recordings were done at study entry, then three and six months after entry...
November 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29125873/u6-snrna-expression-prevents-toxicity-in-tdp-43-knockdown-cells
#19
Masao Yahara, Akira Kitamura, Masataka Kinjo
Depletion of amyotrophic lateral sclerosis (ALS)-associated transactivation response (TAR) RNA/DNA-binding protein 43 kDa (TDP-43) alters splicing efficiency of multiple transcripts and results in neuronal cell death. TDP-43 depletion can also disturb expression levels of small nuclear RNAs (snRNAs) as spliceosomal components. Despite this knowledge, the relationship between cell death and alteration of snRNA expression during TDP-43 depletion remains unclear. Here, we knocked down TDP-43 in murine neuroblastoma Neuro2A cells and found a time lag between efficient TDP-43 depletion and appearance of cell death, suggesting that several mechanisms mediate between these two events...
2017: PloS One
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#20
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
November 8, 2017: Journal of Neuromuscular Diseases
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