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https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#1
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28894961/digital-soil-mapping-using-remote-sensing-indices-terrain-attributes-and-vegetation-features-in-the-rangelands-of-northeastern-iran
#2
Ebrahim Mahmoudabadi, Alireza Karimi, Gholam Hosain Haghnia, Adel Sepehr
Digital soil mapping has been introduced as a viable alternative to the traditional mapping methods due to being fast and cost-effective. The objective of the present study was to investigate the capability of the vegetation features and spectral indices as auxiliary variables in digital soil mapping models to predict soil properties. A region with an area of 1225 ha located in Bajgiran rangelands, Khorasan Razavi province, northeastern Iran, was chosen. A total of 137 sampling sites, each containing 3-5 plots with 10-m interval distance along a transect established based on randomized-systematic method, were investigated...
September 11, 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28889094/analysis-of-known-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-genes-reveals-a-substantial-genetic-burden-in-patients-manifesting-both-diseases-not-carrying-the-c9orf72-expansion-mutation
#3
Oriol Dols-Icardo, Alberto García-Redondo, Ricardo Rojas-García, Daniel Borrego-Hernández, Ignacio Illán-Gala, José Luís Muñoz-Blanco, Alberto Rábano, Laura Cervera-Carles, Alexandra Juárez-Rufián, Nino Spataro, Noemí De Luna, Lucía Galán, Elena Cortes-Vicente, Juan Fortea, Rafael Blesa, Oriol Grau-Rivera, Alberto Lleó, Jesús Esteban-Pérez, Ellen Gelpi, Jordi Clarimón
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. OBJECTIVES: The purpose of the present study was to assess the mutation burden that is present in patients with concurrent ALS and FTD (ALS/FTD) not carrying the chromosome 9 open reading frame 72 (C9orf72) hexanucleotide repeat expansion, the most important genetic cause in both diseases. METHODS: From an initial group of 973 patients with ALS, we retrospectively selected those patients fulfilling diagnostic criteria of concomitant ALS and FTD lacking the repeat expansion mutation in C9orf72...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28869321/series-test-of-cluster-and-network-analysis-for-lupus-nephritis-before-and-after-ifn-k-immunosuppressive-therapy
#4
Sen Luan, Ping Li, Tingting Yi
AIM: The purpose was to screen potential targets of IFN-K-immunosuppressive therapy, which was used to offer effective information and resources for molecular targeted therapy. METHODS: The gene expression profile of GSE72747 was used to screen out significant differently expressed genes (DEGs). Series Test of Cluster (STC) analysis for DEGs was performed. For all DEGs, the Database for Annotation, Visualization, and Integrated Discovery was performed for Gene Ontology (GO) enrichment analysis...
September 4, 2017: Nephrology
https://www.readbyqxmd.com/read/28837687/the-spliceosome-associated-protein-mfap1-binds-to-vcp-in-drosophila
#5
Sandra Rode, Henrike Ohm, Jaqueline Zipfel, Sebastian Rumpf
Posttranscriptional regulation of gene expression contributes to many developmental transitions. Previously, we found that the AAA chaperone Valosin-Containing Protein (VCP) regulates ecdysone-dependent dendrite pruning of Drosophila class IV dendritic arborization (c4da) neurons via an effect on RNA metabolism. In a search for RNA binding proteins associated with VCP, we identified the spliceosome-associated protein Mfap1, a component of the tri-snRNP complex. Mfap1 is a nucleolar protein in neurons and its levels are regulated by VCP...
2017: PloS One
https://www.readbyqxmd.com/read/28835517/targeting-vcp-enhances-anticancer-activity-of-oncolytic-virus-m1-in-hepatocellular-carcinoma
#6
Haipeng Zhang, Kai Li, Yuan Lin, Fan Xing, Xiao Xiao, Jing Cai, Wenbo Zhu, Jiankai Liang, Yaqian Tan, Liwu Fu, Fang Wang, Wei Yin, Bingzheng Lu, Pengxin Qiu, Xingwen Su, Shoufang Gong, Xuetao Bai, Jun Hu, Guangmei Yan
Oncolytic virotherapy is rapidly progressing through clinical evaluation. However, the therapeutic efficacy of oncolytic viruses in humans has been less than expected from preclinical studies. We describe an anticancer drug screen for compounds that enhance M1 oncolytic virus activity in hepatocellular carcinoma (HCC). An inhibitor of the valosin-containing protein (VCP) was identified as the top sensitizer, selectively increasing potency of the oncolytic virus up to 3600-fold. Further investigation revealed that VCP inhibitors cooperated with M1 virus-suppressed inositol-requiring enzyme 1α (IRE1α)-X-box binding protein 1 (XBP1) pathway and triggered irresolvable endoplasmic reticulum (ER) stress, subsequently promoting robust apoptosis in HCC...
August 23, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28815021/toward-an-understanding-of-the-cdc48-p97-atpase
#7
REVIEW
Nicholas Bodnar, Tom Rapoport
A conserved AAA+ ATPase, called Cdc48 in yeast and p97 or VCP in metazoans, plays an essential role in many cellular processes by segregating polyubiquitinated proteins from complexes or membranes. For example, in endoplasmic reticulum (ER)-associated protein degradation (ERAD), Cdc48/p97 pulls polyubiquitinated, misfolded proteins out of the ER and transfers them to the proteasome. Cdc48/p97 consists of an N-terminal domain and two ATPase domains (D1 and D2). Six Cdc48 monomers form a double-ring structure surrounding a central pore...
2017: F1000Research
https://www.readbyqxmd.com/read/28799247/the-valosin-containing-protein-is-a-novel-repressor-of-cardiomyocyte-hypertrophy-induced-by-pressure-overload
#8
Ning Zhou, Ben Ma, Shaunrick Stoll, Tristan T Hays, Hongyu Qiu
Hypertension-induced left ventricular hypertrophy (LVH) is an independent risk factor for heart failure. Regression of LVH has emerged as a major goal in the treatment of hypertensive patients. Here, we tested our hypothesis that the valosin-containing protein (VCP), an ATPase associate protein, is a novel repressor of cardiomyocyte hypertrophy under the pressure overload stress. Left ventricular hypertrophy (LVH) was determined by echocardiography in 4-month male spontaneously hypertensive rats (SHRs) vs. age-matched normotensive Wistar Kyoto (WKY) rats...
October 2017: Aging Cell
https://www.readbyqxmd.com/read/28794043/sorafenib-impedes-rift-valley-fever-virus-egress-by-inhibiting-valosin-containing-protein-function-in-the-cellular-secretory-pathway
#9
Ashwini Brahms, Rajini Mudhasani, Chelsea Pinkham, Krishna Kota, Farooq Nassar, Rouzbeh Zamani, Sina Bavari, Kylene Kehn-Hall
There is an urgent need for therapeutic development to combat Rift Valley fever virus (RVFV) infections, which causes devastating disease in both humans and animals. In an effort to repurpose drugs for RVFV treatment, our previous studies screened a library of FDA-approved drugs. The most promising candidate identified was the hepatocellular and renal cell carcinoma drug, sorafenib. Mechanism of action studies indicated sorafenib targeted a late stage in virus infection and caused a buildup of virions within cells...
August 9, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28782697/the-role-of-brachioradialis-release-during-ao-type-c-distal-radius-fracture-fixation
#10
Tao Ma, Xin Zheng, Xiao-Bo He, Kai-Jin Guo
INTRODUCTION: Open reduction and internal fixation of distal radius fractures often necessitates release of the brachioradialis from the radial styloid. However, whether this common procedure makes the reduction and fixation easier and affects the elbow function has not been fully understood. HYPOTHESIS: Brachioradialis (BR) release during volar plate fixation for type C distal radius fractures makes internal reduction and fixation easier, and it does not adversely affect wrist or elbow function...
August 3, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28777108/genetics-in-inclusion-body-myositis
#11
Simon Rothwell, James B Lilleker, Janine A Lamb
PURPOSE OF REVIEW: To review the advances in our understanding of the genetics of inclusion body myositis (IBM) in the past year. RECENT FINDINGS: One large genetic association study focusing on immune-related genes in IBM has refined the association within the human leukocyte antigen (HLA) region to HLA-DRB1 alleles, and identified certain amino acid positions in HLA-DRB1 that may explain this risk. A suggestive association with CCR5 may indicate genetic overlap with other autoimmune diseases...
August 1, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28760999/exploiting-conformational-plasticity-in-the-aaa-protein-vcp-p97-to-modify-function
#12
Anne Kathrin Schütz, Enrico Rennella, Lewis E Kay
p97/VCP, a member of the AAA+ (ATPases associated with diverse cellular activities) family of proteins, is implicated in the etiology of a group of degenerative diseases affecting bone and muscle tissue as well as the central nervous system. Methyl-TROSY-based NMR studies have previously revealed how disease-causing mutations deregulate a subtle dynamic conformational equilibrium involving the N-terminal domain (NTD) with implications for the binding of certain adaptors, providing insight into how disease mutations lead to abnormal function...
July 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28754127/predictive-biomarkers-of-resistance-to-hypofractionated-radiotherapy-in-high-grade-glioma
#13
Julian Biau, Emmanuel Chautard, Leanne De Koning, Frank Court, Bruno Pereira, Pierre Verrelle, Marie Dutreix
BACKGROUND: Radiotherapy plays a major role in the management of high grade glioma. However, the radioresistance of glioma cells limits its efficiency and drives recurrence inside the irradiated tumor volume leading to poor outcome for patients. Stereotactic hypofractionated radiotherapy is one option for recurrent high grade gliomas. Optimization of hypofractionated radiotherapy with new radiosensitizing agents requires the identification of robust druggable targets involved in radioresistance...
July 28, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/28738334/time-course-of-radiological-imaging-and-variable-interindividual-symptoms-in-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-associated-with-p-arg487his-mutation-in-the-vcp%C3%A2-gene
#14
Makito Hirano, Yuko Yamagishi, Satoshi Yanagimoto, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
To our knowledge, this is the first study to report the time course of radiological imaging of 3 patients from 2 families with VCP-related amyotrophic lateral sclerosis (ALS) and dementia. Both families shared the same p.Arg487His mutation in the VCP gene encoding valosin-containing protein. The first patient started to have a typical form of ALS, followed by dementia 7 years later. The second patient, a brother of the first one, had frontotemporal dementia and parkinsonism. The third patient had simultaneous ALS and dementia...
2017: European Neurology
https://www.readbyqxmd.com/read/28724763/species-specificity-of-vaccinia-virus-complement-control-protein-towards-bovine-classical-pathway-is-governed-primarily-by-direct-interaction-of-its-acidic-residues-with-factor-i
#15
Jitendra Kumar, Viveka Nand Yadav, Swastik Phulera, Ashish Kamble, Avneesh Kumar Gautam, Hemendra Singh Panwar, Arvind Sahu
Poxviruses display species tropism - variola virus is a human-specific virus, while vaccinia virus causes repeated outbreaks in dairy cattle. Consistent with this, variola virus complement regulator SPICE exhibit selectivity in inhibiting the human alternative complement pathway and vaccinia virus complement regulator VCP display selectivity in inhibiting the bovine alternative complement pathway. In the present study, we examined the species-specificity of VCP and SPICE towards the classical pathway (CP). We observed that VCP is ∼43-fold superior in inhibiting bovine CP than SPICE...
July 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28724584/vcp-related-multisystem-proteinopathy-presenting-as-early-onset-parkinson-disease
#16
Martin Regensburger, Matthias Türk, Axel Pagenstecher, Rolf Schröder, Jürgen Winkler
No abstract text is available yet for this article.
July 19, 2017: Neurology
https://www.readbyqxmd.com/read/28710704/systemic-analysis-of-mirnas-in-pd-stress-condition-mir-5701-modulates-mitochondrial-lysosomal-cross-talk-to-regulate-neuronal-death
#17
Paresh Prajapati, Lakshmi Sripada, Kritarth Singh, Milton Roy, Khyati Bhatelia, Pooja Dalwadi, Rajesh Singh
Parkinson's disease (PD) is complex neurological disorder and is prevalent in the elderly population. This is primarily due to loss of dopaminergic neurons in the substantia nigra pars compacta (SNc) region of the brain. The modulators of the selective loss of dopaminergic neurons in PD are still not well understood. The small non-coding RNAs specifically miRNAs fine-tune the protein levels by post-transcriptional gene regulation. The role of miRNAs in PD pathogenesis is still not well characterized. In the current study, we identified the miRNA expression pattern in 6-OHDA-induced PD stress condition in SH-SY5Y, dopaminergic neuronal cell line...
July 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28706168/-the-effects-of-violence-coping-program-based-on-middle-range-theory-of-resilience-on-emergency-room-nurses-resilience-violence-coping-nursing-competency-and-burnout
#18
Seung Min Lee, Kyung Mi Sung
PURPOSE: The purpose of this study was to examine the effects of a violence coping program (VCP) based on Polk's middle-range theory of resilience on nursing competency, resilience, burnout, and the ability to cope with violence in nurses working in emergency rooms. METHODS: A quasi-experimental study, with a nonequivalent control group and a pretest-posttest design, was conducted. Participants were 36 nurses who worked in emergency rooms and had experienced violence; 18 nurses from D hospital and 18 nurses from C hospital were assigned to the experimental and control groups, respectively...
June 2017: Journal of Korean Academy of Nursing
https://www.readbyqxmd.com/read/28692196/genotype-phenotype-study-in-patients-with-vcp-valosin-containing-protein-mutations-associated-with-multisystem-proteinopathy
#19
Ebaa Al-Obeidi, Sejad Al-Tahan, Abhilasha Surampalli, Namita Goyal, Annabel Wang, Andreas Hermann, Molly Omizo, Charles Smith, Tahseen Mozaffar, Virginia Kimonis
Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males, 113 females) from 36 families carrying 15 different VCP mutations. We analyzed correlation between the different mutations and prevalence, age of onset and severity of myopathy, PDB, and FTD, and other comorbidities...
July 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28691899/aggregation-of-a-hepatitis-c-virus-replicase-module-induced-by-ablation-of-p97-vcp
#20
Zhigang Yi, Zhenghong Yuan
Hijacking host membranes to assemble a membrane-associated viral replicase is a hallmark of almost all positive-strand RNA viruses. However, how the virus co-opts host factors to facilitate this energy-unfavourable process is incompletely understood. In a previous study, using hepatitis C virus (HCV) as a model and employing affinity purification of the viral replicase, we identified a valosin-containing protein (p97/VCP), a member of the ATPases associated with diverse cellular activities (AAA+ ATPase family), as a viral replicase-associated host factor...
July 2017: Journal of General Virology
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