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https://www.readbyqxmd.com/read/27906075/nuclear-bodies-reorganize-during-myogenesis-in-vitro-and-are-differentially-disrupted-by-expression-of-fshd-associated-dux4
#1
Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M Boyce, Jeffrey Boone Miller
BACKGROUND: Nuclear bodies, such as nucleoli, PML bodies, and SC35 speckles, are dynamic sub-nuclear structures that regulate multiple genetic and epigenetic processes. Additional regulation is provided by RNA/DNA handling proteins, notably TDP-43 and FUS, which have been linked to ALS pathology. Previous work showed that mouse cell line myotubes have fewer but larger nucleoli than myoblasts, and we had found that nuclear aggregation of TDP-43 in human myotubes was induced by expression of DUX4-FL, a transcription factor that is aberrantly expressed and causes pathology in facioscapulohumeral dystrophy (FSHD)...
December 1, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27898262/characterization-of-genetic-loss-of-function-of-fus-in-zebrafish
#2
Svetlana Lebedeva, António M de Jesus Domingues, Falk Butter, René F Ketting
The RNA-binding protein FUS is implicated in transcription, alternative splicing of neuronal genes and DNA repair. Mutations in FUS have been linked to human neurodegenerative diseases such as ALS (amyotrophic lateral sclerosis). We genetically disrupted fus in zebrafish (Danio rerio) using the CRISPR-Cas9 system. The fus knockout animals are fertile and did not show any distinctive phenotype. Mutation of fus induces mild changes in gene expression on the transcriptome and proteome level in the adult brain...
November 29, 2016: RNA Biology
https://www.readbyqxmd.com/read/27849576/two-familial-als-proteins-function-in-prevention-repair-of-transcription-associated-dna-damage
#3
Sarah J Hill, Daniel A Mordes, Lisa A Cameron, Donna S Neuberg, Serena Landini, Kevin Eggan, David M Livingston
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron dysfunction disease that leads to paralysis and death. There is currently no established molecular pathogenesis pathway. Multiple proteins involved in RNA processing are linked to ALS, including FUS and TDP43, and we propose a disease mechanism in which loss of function of at least one of these proteins leads to an accumulation of transcription-associated DNA damage contributing to motor neuron cell death and progressive neurological symptoms...
November 29, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27818323/als-causing-mutations-differentially-affect-pgc-1%C3%AE-expression-and-function-in-the-brain-vs-peripheral-tissues
#4
Hanna Bayer, Kerstin Lang, Eva Buck, Julia Higelin, Lara Barteczko, Noemi Pasquarelli, Jasmin Sprissler, Tanja Lucas, Karlheinz Holzmann, Maria Demestre, Katrin S Lindenberg, Karin M Danzer, Tobias Boeckers, Albert C Ludolph, Luc Dupuis, Patrick Weydt, Anke Witting
BACKGROUND: Monogenetic forms of amyotrophic lateral sclerosis (ALS) offer an opportunity for unraveling the molecular mechanisms underlying this devastating neurodegenerative disorder. In order to identify a link between ALS-related metabolic changes and neurodegeneration, we investigated whether ALS-causing mutations interfere with the peripheral and brain-specific expression and signaling of the metabolic master regulator PGC (PPAR gamma coactivator)-1α (PGC-1α). METHODS: We analyzed the expression of PGC-1α isoforms and target genes in two mouse models of familial ALS and validated the stimulated PGC-1α signaling in primary adipocytes and neurons of these animal models and in iPS derived motoneurons of two ALS patients harboring two different frame-shift FUS/TLS mutations...
November 3, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27810362/imbalance-of-mitochondrial-dynamics-in-drosophila-models-of-amyotrophic-lateral-sclerosis
#5
Volodya Altanbyek, Sun-Joo Cha, Ga-Un Kang, Dai Sig Im, Seongsoo Lee, Hyung-Jun Kim, Kiyoung Kim
Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease, characterized by progressive and selective loss of motor neurons in the brain and spinal cord. DNA/RNA-binding proteins such as TDP-43, FUS, and TAF15 have been linked with the sporadic and familial forms of ALS. However, the exact pathogenic mechanism of ALS is still unknown. Recently, we found that ALS-causing genes such as TDP-43, FUS, and TAF15 genetically interact with mitochondrial dynamics regulatory genes. In this study, we show that mitochondrial fission was highly enhanced in muscles and motor neurons of TDP-43, FUS, and TAF15-induced fly models of ALS...
October 31, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27796305/monitoring-peripheral-nerve-degeneration-in-als-by-label-free-stimulated-raman-scattering-imaging
#6
Feng Tian, Wenlong Yang, Daniel A Mordes, Jin-Yuan Wang, Johnny S Salameh, Joanie Mok, Jeannie Chew, Aarti Sharma, Ester Leno-Duran, Satomi Suzuki-Uematsu, Naoki Suzuki, Steve S Han, Fa-Ke Lu, Minbiao Ji, Rosanna Zhang, Yue Liu, Jack Strominger, Neil A Shneider, Leonard Petrucelli, X Sunney Xie, Kevin Eggan
The study of amyotrophic lateral sclerosis (ALS) and potential interventions would be facilitated if motor axon degeneration could be more readily visualized. Here we demonstrate that stimulated Raman scattering (SRS) microscopy could be used to sensitively monitor peripheral nerve degeneration in ALS mouse models and ALS autopsy materials. Three-dimensional imaging of pre-symptomatic SOD1 mouse models and data processing by a correlation-based algorithm revealed that significant degeneration of peripheral nerves could be detected coincidentally with the earliest detectable signs of muscle denervation and preceded physiologically measurable motor function decline...
October 31, 2016: Nature Communications
https://www.readbyqxmd.com/read/27794540/pink1-and-parkin-are-genetic-modifiers-for-fus-induced-neurodegeneration
#7
Yanbo Chen, Jianwen Deng, Peng Wang, Mengxue Yang, Xiaoping Chen, Li Zhu, Jianghong Liu, Bingwei Lu, Yan Shen, Kazuo Fushimi, Qi Xu, Jane Y Wu
Dysregulation of FUS gene expression is associated with fronto-temporal lobar degeneration (FTLD), and missense mutations in the FUS gene have been identified in patients affected by amyotrophic lateral sclerosis (ALS). However, molecular and cellular defects underlying FUS proteinopathy remain to be elucidated. Here, we examined whether genes important for mitochondrial quality control play a role in FUS proteinopathy. In our genetic screening, Pink1 and Park genes were identified as modifiers of neurodegeneration phenotypes induced by wild type (Wt) or ALS-associated P525L-mutant human FUS...
October 29, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27793099/severe-respiratory-changes-at-end-stage-in-a-fus-induced-disease-state-in-adult-rats
#8
Kasey L Jackson, Hemangini A Dhaibar, Robert D Dayton, Sergio G Cananzi, William G Mayhan, Edward Glasscock, Ronald L Klein
BACKGROUND: Fused in sarcoma (FUS) is an RNA-binding protein associated with the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. ALS manifests in patients as a progressive paralysis which leads to respiratory dysfunction and failure, the primary cause of death in ALS. We expressed human FUS in rats to determine if FUS would induce ALS relevant respiratory changes to serve as an early stage disease indicator. The FUS expression was initiated in adult rats by way of an intravenously administered adeno-associated virus vector serotype 9 (AAV9) providing an adult onset model...
October 28, 2016: BMC Neuroscience
https://www.readbyqxmd.com/read/27766033/changes-in-the-expression-of-fus-tls-in-spinal-cords-of-sod1-g93a-transgenic-mice-and-correlation-with-motor-neuron-degeneration
#9
Jiao Li, Yi Lu, Huiting Liang, Chunyan Tang, Lei Zhu, Jie Zhang, Renshi Xu
In order to searching the possible pathogenesis of amyotrophic lateral sclerosis (ALS), we examined the expression and distribution of FUS/TLS protein in the different anatomic regions, segments and neural cells of adult spinal cord at the different stages of the SOD1 wild-type and G93A transgenic mice using the fluorescent immunohistochemistry. Result revealed that, in the SOD1 wild-type mice, the FUS/TLS expression almost wasn't detected. However, in the SOD1 G93A mice, the FUS/TLS expression in the white matter was significantly more than that in the gray matter...
2016: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/27739513/fus-tls-acts-as-an-aggregation-dependent-modifier-of-polyglutamine-disease-model-mice
#10
Yoshihiro Kino, Chika Washizu, Masaru Kurosawa, Mizuki Yamada, Hiroshi Doi, Toru Takumi, Hiroaki Adachi, Masahisa Katsuno, Gen Sobue, Geoffrey G Hicks, Nobutaka Hattori, Tomomi Shimogori, Nobuyuki Nukina
FUS/TLS is an RNA/DNA-binding protein associated with neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Previously, we found that a prion-like domain in the N-terminus of FUS/TLS mediates co-aggregation between FUS/TLS and mutant huntingtin, the gene product of Huntington's disease (HD). Here, we show that heterozygous knockout of FUS/TLS worsened the phenotypes of model mice of (HD, but not spinal and bulbar muscular atrophy (SBMA). This difference was correlated with the degree of pathological association between disease proteins and FUS/TLS...
October 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27731383/fus-interacts-with-nuclear-matrix-associated-protein-safb1-as-well-as-matrin3-to-regulate-splicing-and-ligand-mediated-transcription
#11
Atsushi Yamaguchi, Keisuke Takanashi
FUS (Fused-in-Sarcoma) is a multifunctional DNA/RNA binding protein linked to familial amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). Since FUS is localized mainly in the nucleus with nucleo-cytoplasmic shuttling, it is critical to understand physiological functions in the nucleus to clarify pathogenesis. Here we report a yeast two-hybrid screening identified FUS interaction with nuclear matrix-associated protein SAFB1 (scaffold attachment factor B1). FUS and SAFB1, abundant in chromatin-bound fraction, interact in a DNA-dependent manner...
October 12, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27716404/clinicopathological-characteristics-of-patients-with-amyotrophic-lateral-sclerosis-resulting-in-a-totally-locked-in-state-communication-stage-v
#12
Kentaro Hayashi, Yoko Mochizuki, Ryoko Takeuchi, Toshio Shimizu, Masahiro Nagao, Kazuhiko Watabe, Nobutaka Arai, Kiyomitsu Oyanagi, Osamu Onodera, Masaharu Hayashi, Hitoshi Takahashi, Akiyoshi Kakita, Eiji Isozaki
In the present study, we performed a comprehensive analysis to clarify the clinicopathological characteristics of patients with amyotrophic lateral sclerosis (ALS) that had progressed to result in a totally locked-in state (communication Stage V), in which all voluntary movements are lost and communication is impossible. In 11 patients, six had phosphorylated TAR DNA-binding protein 43 (pTDP-43)-immunoreactive (ir) neuronal cytoplasmic inclusions (NCI), two had fused in sarcoma (FUS)-ir NCI, and three had copper/zinc superoxide dismutase (SOD1)-ir NCI...
September 30, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27693252/tdp-43-fus-in-motor-neuron-disease-complexity-and-challenges
#13
REVIEW
Erika N Guerrero, Haibo Wang, Joy Mitra, Pavana M Hegde, Sara E Stowell, Nicole F Liachko, Brian C Kraemer, Ralph M Garruto, K S Rao, Muralidhar L Hegde
Amyotrophic lateral sclerosis (ALS), a common motor neuron disease affecting two per 100,000 people worldwide, encompasses at least five distinct pathological subtypes, including, ALS-SOD1, ALS-C9orf72, ALS-TDP-43, ALS-FUS and Guam-ALS. The etiology of a major subset of ALS involves toxicity of the TAR DNA-binding protein-43 (TDP-43). A second RNA/DNA binding protein, fused in sarcoma/translocated in liposarcoma (FUS/TLS) has been subsequently associated with about 1% of ALS patients. While mutations in TDP-43 and FUS have been linked to ALS, the key contributing molecular mechanism(s) leading to cell death are still unclear...
October 2016: Progress in Neurobiology
https://www.readbyqxmd.com/read/27634045/familial-amyotrophic-lateral-sclerosis-linked-mutations-in-profilin-1-exacerbate-tdp-43-induced-degeneration-in-the-retina-of-drosophila-melanogaster-through-an-increase-in-the-cytoplasmic-localization-of-tdp-43
#14
Koji Matsukawa, Tadafumi Hashimoto, Taisei Matsumoto, Ryoko Ihara, Takahiro Chihara, Masayuki Miura, Tomoko Wakabayashi, Takeshi Iwatsubo
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive and selective loss of motor neurons. Causative genes for familial ALS (fALS), e.g. TARDBP or FUS/TLS, have been found, among which mutations within the profilin 1 (PFN1) gene have recently been identified in ALS18. To elucidate the mechanism whereby PFN1 mutations lead to neuronal death, we generated transgenic Drosophila melanogaster overexpressing human PFN1 in the retinal photoreceptor neurons. Overexpression of wild-type or fALS mutant PFN1 caused no degenerative phenotypes in the retina...
November 4, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27615052/a-novel-missense-mutation-of-cmt2p-alters-transcription-machinery
#15
Bo Hu, Sezgi Arpag, Stephan Zuchner, Jun Li
OBJECTIVE: Charcot-Marie-Tooth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3 ligase). This study describes families with a novel missense mutation of LRSAM1 gene and explores pathogenic mechanisms of CMT2P. METHODS: Patients with CMT2P were characterized clinically, electrophysiologically, and genetically. A neuronal model with the LRSAM1 mutation was created using CRISPR/Cas9 technology. The neuronal cell line along with fibroblasts isolated from the patients was used to study RNA-binding proteins...
September 12, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27604643/screening-of-sod1-fus-and-tardbp-genes-in-patients-with-amyotrophic-lateral-sclerosis-in-central-southern-china
#16
Lihua Hou, Bin Jiao, Tingting Xiao, Lu Zhou, Zhifan Zhou, Juan Du, Xinxiang Yan, Junling Wang, Beisha Tang, Lu Shen
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons of the brain, brainstem and spinal cord. To date, mutations in more than 30 genes have been linked to the pathogenesis of ALS. Among them, SOD1, FUS and TARDBP are ranked as the three most common genes associated with ALS. However, no mutation analysis has been reported in central-southern China. In this study, we sequenced SOD1, FUS and TARDBP in a central-southern Chinese cohort of 173 patients with ALS (15 familial ALS and 158 sporadic ALS) to detect mutations...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27600654/pathogenesis-of-fus-associated-als-and-ftd-insights-from-rodent-models
#17
REVIEW
Matthew Nolan, Kevin Talbot, Olaf Ansorge
Disruptions to genes linked to RNA processing and homeostasis are implicated in the pathogenesis of two pathologically related but clinically heterogeneous neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in the Fused-in-Sarcoma (FUS) gene encoding a 526 amino-acid RNA-binding protein are found in a small subset of ALS cases, but FUS mutations do not appear to be a direct cause of FTD. Structural and functional similarities between FUS and another ALS-related RNA-binding protein, TDP-43, highlight the potential importance of aberrant RNA processing in ALS/FTD, and this pathway is now a major focus of interest...
2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27497493/nuclear-trafficking-in-amyotrophic-lateral-sclerosis-and-frontotemporal-lobar-degeneration
#18
Sonja Prpar Mihevc, Simona Darovic, Anja Kovanda, Ana Bajc Česnik, Vera Župunski, Boris Rogelj
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are two ends of a phenotypic spectrum of disabling, relentlessly progressive and ultimately fatal diseases. A key characteristic of both conditions is the presence of TDP-43 (encoded by TARDBP) or FUS immunoreactive cytoplasmic inclusions in neuronal and glial cells. This cytoplasmic mislocalization of otherwise predominantly nuclear RNA binding proteins implies a perturbation of the nucleocytoplasmic shuttling as a possible event in the pathogenesis...
August 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27480424/c9orf72-and-ubqln2-mutations-are-causes-of-amyotrophic-lateral-sclerosis-in-new-zealand-a-genetic-and-pathologic-study-using-banked-human-brain-tissue
#19
Emma L Scotter, Leon Smyth, J Ames W T Bailey, Chun-Hao Wong, Martina de Majo, Caroline A Vance, Beth J Synek, Clinton Turner, Jennifer Pereira, Alison Charleston, Henry J Waldvogel, Maurice A Curtis, Mike Dragunow, Christopher E Shaw, Bradley N Smith, Richard L M Faull
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, which causes progressive and eventually fatal loss of motor function. Here, we describe genetic and pathologic characterization of brain tissue banked from 19 ALS patients over nearly 20 years at the Department of Anatomy and the Centre for Brain Research, University of Auckland, New Zealand. We screened for mutations in SOD1, TARDBP, FUS, and C9ORF72 genes and for neuropathology caused by phosphorylated TDP-43, dipeptide repeats (DPRs), and ubiquilin...
July 5, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27460707/proteomic-analysis-of-fus-interacting-proteins-provides-insights-into-fus-function-and-its-role-in-als
#20
Marisa Kamelgarn, Jing Chen, Lisha Kuang, Alexandra Arenas, Jianjun Zhai, Haining Zhu, Jozsef Gal
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Mutations in the Fused in Sarcoma/Translocated in Liposarcoma (FUS/TLS) gene cause a subset of familial ALS cases and are also implicated in sporadic ALS. FUS is typically localized to the nucleus. The ALS-related FUS mutations cause cytoplasmic mis-localization and the formation of stress granule-like structures. Abnormal cytoplasmic FUS localization was also found in a subset of frontotemporal dementia (FTLD) cases without FUS mutations...
October 2016: Biochimica et Biophysica Acta
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