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Huntingtons disease

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https://www.readbyqxmd.com/read/28821645/mutant-huntingtin-is-secreted-via-a-late-endosomal-lysosomal-unconventional-secretory-pathway
#1
Katarina Trajkovic, Hyunkyong Jeong, Dimitri Krainc
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG triplet in the gene encoding for huntingtin. The resulting mutant protein huntingtin (mHtt) with extended polyglutamine (polyQ) sequence at the N-terminus leads to neuronal degeneration both in cell-autonomous and non-cell-autonomous manners. Recent studies identified mHtt in the extracellular environment and suggested that its spreading contributes to toxicity, but the mechanism of mHtt release from the cell of origin remains unknown...
August 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28820437/are-astrocytes-the-predominant-cell-type-for-activation-of-nrf2-in-aging-and-neurodegeneration
#2
REVIEW
Jeffrey R Liddell
Nuclear factor erythroid 2-related factor 2 (Nrf2) is a transcription factor that regulates hundreds of antioxidant genes, and is activated in response to oxidative stress. Given that many neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease and multiple sclerosis are characterised by oxidative stress, Nrf2 is commonly activated in these diseases. Evidence demonstrates that Nrf2 activity is repressed in neurons in vitro, and only cultured astrocytes respond strongly to Nrf2 inducers, leading to the interpretation that Nrf2 signalling is largely restricted to astrocytes...
August 18, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28819135/ribosomal-transcription-is-regulated-by-pgc-1alpha-and-disturbed-in-huntington-s-disease
#3
Sarah Jesse, Hanna Bayer, Marius C Alupei, Martina Zügel, Medhanie Mulaw, Francesca Tuorto, Silke Malmsheimer, Karmveer Singh, Jürgen Steinacker, Uwe Schumann, Albert C Ludolph, Karin Scharffetter-Kochanek, Anke Witting, Patrick Weydt, Sebastian Iben
PGC-1α is a versatile inducer of mitochondrial biogenesis and responsive to the changing energy demands of the cell. As mitochondrial ATP production requires proteins that derive from translation products of cytosolic ribosomes, we asked whether PGC-1α directly takes part in ribosomal biogenesis. Here, we show that a fraction of cellular PGC-1α localizes to the nucleolus, the site of ribosomal transcription by RNA polymerase I. Upon activation PGC-1α associates with the ribosomal DNA and boosts recruitment of RNA polymerase I and UBF to the rDNA promoter...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28817861/population-health-management-and-cancer-screening
#4
Bradley Kamstra, Mark K Huntington
Population health management (PHM) is a new health care model being implemented. It has been defined as "the health outcomes of a group of individuals, including the distribution of such outcomes within the group." This includes health outcomes and patterns of health determinants, and policies and interventions that link these two. Moving from a fee-for-service payment system to a quality- or value-based system, this model places on the clinician more responsibility for the costs of health care and its reimbursements...
2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28817722/nicotinamide-alone-accelerates-the-conversion-of-mouse-embryonic-stem-cells-into-mature-neuronal-populations
#5
Síle M Griffin, Mark R Pickard, Rowan P Orme, Clive P Hawkins, Adrian C Williams, Rosemary A Fricker
INTRODUCTION: Vitamin B3 has been shown to play an important role during embryogenesis. Specifically, there is growing evidence that nicotinamide, the biologically active form of vitamin B3, plays a critical role as a morphogen in the differentiation of stem cells to mature cell phenotypes, including those of the central nervous system (CNS). Detailed knowledge of the action of small molecules during neuronal differentiation is not only critical for uncovering mechanisms underlying lineage-specification, but also to establish more effective differentiation protocols to obtain clinically relevant cells for regenerative therapies for neurodegenerative conditions such as Huntington's disease (HD)...
2017: PloS One
https://www.readbyqxmd.com/read/28817209/huntington-s-disease-a-clinical-review
#6
Peter McColgan, Sarah J Tabrizi
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100,000. It is characterised by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein...
August 17, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28815114/an-exploration-of-latent-structure-in-observational-huntington-s-disease-studies
#7
Soumya Ghosh, Zhaonan Sun, Ying Li, Yu Cheng, Amrita Mohan, Cristina Sampaio, Jianying Hu
Huntington's disease (HD) is a monogenic neurodegenerative disorder characterized by the progressive decay of motor and cognitive abilities accompanied by psychiatric episodes. Tracking and modeling the progression of the multi-faceted clinical symptoms of HD is a challenging problem that has important implications for staging of HD patients and the development of improved enrollment criteria for future HD studies and trials. In this paper, we describe the first steps towards this goal. We begin by curating data from four recent observational HD studies, each containing a diverse collection of clinical assessments...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28813761/epidemiologic-study-of-bacteria-zoonotic-diseases-in-south-dakota-2010-2014
#8
Jessica L Ludvik, Susan M Anderson, Mark K Huntington
BACKGROUND: Although the burden of infectious diseases has decreased dramatically due to advances in health care, disease prevention and numerous public health efforts and innovations, zoonotic diseases continue to pose a problem in terms of both existing and emerging diseases. These risks are of particular concern in rural areas, in which there is more contact with animals for occupational and recreational purposes. As a rural and agricultural state, South Dakota has a large percentage of its population at risk of exposure to zoonotic diseases through their substantial contact time with animals...
June 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28813734/the-36-hour-day-revisited-implementing-a-caregiver-support-system-into-primary-care-practice
#9
Rachel Sunne, Mark K Huntington
An estimated 5.3 million Americans had Alzheimer's disease in 2015. With the aging population and rapid rise in those with dementia, it is vital to not only care for the dementia patient, but also his or her primary caregiver. Caregivers often suffer from depression and neglect their own health in order to care for their loved one. In this regard, included is a review of the role of the primary care physician including the importance of discussing the diagnosis of dementia with the patient and family, providing supportive services and resources, as well as the challenges that many physicians face in tackling the care of a dementia caregiver...
April 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#10
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
August 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28813079/diffusion-tensor-imaging-of-brain-white-matter-in-huntington-gene-mutation-individuals
#11
Roberta Arb Saba, James H Yared, Thomas M Doring, Med Phys, Vanderci Borges, Henrique Ballalai Ferraz
Objective: To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods: We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28807009/adverse-mental-health-outcomes-in-breast-cancer-survivors-compared-to-women-who-did-not-have-cancer-systematic-review-protocol
#12
Helena Carreira, Rachael Williams, Martin Müller, Rhea Harewood, Krishnan Bhaskaran
BACKGROUND: Recent increasing trends in breast cancer incidence and survival have resulted in unprecedented numbers of cancer survivors in the general population. A cancer diagnosis may have a profound psychological impact, and breast cancer treatments often cause long-term physical sequelae, potentially affecting women's mental health. The aim of this systematic review is to identify and summarise all studies that have compared mental health outcomes in breast cancer survivors, versus women who did not have cancer...
August 14, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28805577/nonmotor-symptoms-in-huntington-disease
#13
Francisco Cardoso
Huntington disease (HD) is characterized by the triad of motor abnormalities, cognitive dysfunction, and behavioral changes. The aim of this chapter is to describe the frequency, clinical features, and management of behavioral and cognitive dysfunction in HD. Depression, suicidal ideation, apathy, irritability, aggressiveness, obsessions, and compulsions are the most common behavioral abnormalities in HD. All HD patients develop cognitive decline. Recent data suggest that these nonmotor changes are found in premanifest HD gene carriers...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804999/diversity-of-astroglial-responses-across-human-neurodegenerative-disorders-and-brain-aging
#14
Isidro Ferrer
Astrogliopathy refers to alterations of astrocytes occurring in diseases of the nervous system, and it implies the involvement of astrocytes as key elements in the pathogenesis and pathology of diseases and injuries of the central nervous system. Reactive astrocytosis refers to the response of astrocytes to different insults to the nervous system, whereas astrocytopathy indicates hypertrophy, atrophy/degeneration and loss of function and pathological remodeling occurring as a primary cause of a disease or as a factor contributing to the development and progression of a particular disease...
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28803727/elimination-of-toxic-microsatellite-repeat-expansion-rna-by-rna-targeting-cas9
#15
Ranjan Batra, David A Nelles, Elaine Pirie, Steven M Blue, Ryan J Marina, Harrison Wang, Isaac A Chaim, James D Thomas, Nigel Zhang, Vu Nguyen, Stefan Aigner, Sebastian Markmiller, Guangbin Xia, Kevin D Corbett, Maurice S Swanson, Gene W Yeo
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's disease, and C9orf72-linked amyotrophic lateral sclerosis (C9-ALS). Means to target these repetitive RNAs are required for diagnostic and therapeutic purposes. Here, we describe the development of a programmable CRISPR system capable of specifically visualizing and eliminating these toxic RNAs. We observe specific targeting and efficient elimination of microsatellite repeat expansion RNAs both when exogenously expressed and in patient cells...
August 8, 2017: Cell
https://www.readbyqxmd.com/read/28803251/epidemiological-study-of-huntington-s-disease-in-the-province-of-ferrara-italy
#16
Erika Carrassi, Maura Pugliatti, Vittorio Govoni, Mariachiara Sensi, Ilaria Casetta, Enrico Granieri
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. METHODS: Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures...
August 12, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28802692/de-novo-transcriptome-assembly-and-rna-seq-expression-analysis-in-blood-from-beluga-whales-of-bristol-bay-ak
#17
Jeanine S Morey, Kathy A Burek Huntington, Michelle Campbell, Tonya M Clauss, Caroline E Goertz, Roderick C Hobbs, Denise Lunardi, Amanda J Moors, Marion G Neely, Lori H Schwacke, Frances M Van Dolah
Assessing the health of marine mammal sentinel species is crucial to understanding the impacts of environmental perturbations on marine ecosystems and human health. In Arctic regions, beluga whales, Delphinapterus leucas, are upper level predators that may serve as a sentinel species, potentially forecasting impacts on human health. While gene expression profiling from blood transcriptomes has widely been used to assess health status and environmental exposures in human and veterinary medicine, its use in wildlife has been limited due to the lack of available genomes and baseline data...
August 9, 2017: Marine Genomics
https://www.readbyqxmd.com/read/28801366/fullerenes-may-cause-eif-mediated-perturbation-in-translational-machinery-evidence-from-in-silico-analysis
#18
Sumbul Firdaus, Anupam Dhasmana, Mohd Wahid, Arshad Jawed, Raju K Mandal, Sajad A Dar, Mohammed Y Areeshi, Mohtashim Lohani, Shafiul Haque
GOALS: Fullerenes have tremendous potential for human biological studies which may further lead to their therapeutic applications. Hence, it has become necessary to explore the possibility of their interference with various important cellular processes. The current study was designed to explore how the presence of fullerenes can affect the binding of DNA with different enzymes and factors involved in transcription and translation process. METHODS: Various bioinformatics approaches and software programs were used to study the effect of fullerenes on the binding pattern of DNA with different enzymes and factors involved in transcription and translation process...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28801166/nuclear-factor-erythroid-derived-2-like-2-nrf2-drug-discovery-biochemical-toolbox-to-develop-nrf2-activators-by-reversible-binding-of-kelch-like-ech-associated-protein-1-keap1
#19
REVIEW
Alberto Bresciani, Antonino Missineo, Mariana Gallo, Mauro Cerretani, Paola Fezzardi, Licia Tomei, Daniel Oscar Cicero, Sergio Altamura, Alessia Santoprete, Raffaele Ingenito, Elisabetta Bianchi, Robert Pacifici, Celia Dominguez, Ignacio Munoz-Sanjuan, Steven Harper, Leticia Toledo-Sherman, Larry C Park
Mechanisms that activate innate antioxidant responses, as a way to mitigate oxidative stress at the site of action, hold much therapeutic potential in diseases, such as Parkinson's disease, Alzheimer's disease and Huntington's disease, where the use of antioxidants as monotherapy has not yielded positive results. The nuclear factor NRF2 is a transcription factor whose activity upregulates the expression of cell detoxifying enzymes in response to oxidative stress. NRF2 levels are modulated by KEAP1, a sensor of oxidative stress...
August 8, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28799481/evolving-motivations-patients-and-caregivers-perceptions-about-seeking-myotonic-dystrophy-dm1-and-huntington-s-disease-care
#20
Kori A LaDonna, Christopher J Watling, Susan L Ray, Christine Piechowicz, Shannon L Venance
Patient-centered care provision is challenging under ideal circumstances; myotonic dystrophy (DM1) and Huntington's disease (HD) are examples of chronic, progressive health conditions that may challenge its limits. If we can understand how care unfolds in these conditions, health care providers may be better equipped to address patients' needs. Constructivist grounded theory informed data collection and analysis. Fourteen patients with DM1 or HD, and 10 caregivers participated in semistructured interviews. Constant comparative analysis was used to identify themes...
September 2017: Qualitative Health Research
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