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https://www.readbyqxmd.com/read/29453932/neurotrophin-3-restores-synaptic-plasticity-in-the-striatum-of-a-mouse-model-of-huntington-s-disease
#1
Victor G Gómez-Pineda, Francisco M Torres-Cruz, César I Vivar-Cortés, Elizabeth Hernández-Echeagaray
AIMS: Neurotrophin-3 (NT-3) is expressed in the mouse striatum; however, it is not clear the NT-3 role in striatal physiology. The expression levels of mRNAs and immune localization of the NT-3 protein and its receptor TrkC are altered in the striatum following damage induced by an in vivo treatment with 3-nitropropionic acid (3-NP), a mitochondrial toxin used to mimic the histopathological hallmarks of Huntington's disease (HD). The aim of this study was to evaluate the role of NT-3 on corticostriatal synaptic transmission and its plasticity in both the control and damaged striatum...
February 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29451775/fluorescence-imaging-of-huntingtin-mrna-knockdown
#2
Eunseon Oh, Yuhong Liu, Mahesh V Sonar, Diane Merry, Eric Wickstrom
Huntington's disease (HD) is an autosomal-dominant neurodegenerative genetic disorder caused by CAG repeat expansion in exon 1 of the HTT gene. Expression of the mutant gene results in the production of a neurotoxic polyglutamine (polyQ)-expanded huntingtin (Htt) protein. Clinical trials of knockdown therapy of mutant polyglutamine-encoding HTT mRNA in Huntington's disease (HD) have begun. To measure HTT mRNA knockdown effectiveness in human cells, we utilized a fluorescent hybridization imaging agent specific to the region encompassing the human HTT mRNA initiation codon...
February 16, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29447051/targeting-crosstalk-between-nuclear-factor-erythroid-derived-2-like-2-and-nuclear-factor-kappa-beta-pathway-by-nrf2-activator-dimethyl-fumarate-in-epileptogenesis
#3
Neha Singh, Sheekha Vijayanti, Lekha Saha
Epilepsy is a complex, chronic neurological disorder characterized by increased and abnormal synchronization of neuronal electrical activity, which is manifested as seizures. It is associated with many comorbid conditions such as depression, anxiety, sleep disorder, psychiatric disorder etc. which consequently causes higher mortality rate. The understanding of its cellular and molecular mechanism is partial, because of which it remains an ongoing health problem, despite the increasing availability of newer antiepileptic drugs...
February 15, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29445514/exploring-computerised-cognitive-training-as-a-therapeutic-intervention-for-people-with-huntington-s-disease-cogtrainhd-protocol-for-a-randomised-feasibility-study
#4
Emma Yhnell, Hannah Furby, Rachel S Breen, Lucy C Brookes-Howell, Cheney J G Drew, Rebecca Playle, Gareth Watson, Claudia Metzler-Baddeley, Anne E Rosser, Monica E Busse
Background: Cognitive impairments, especially deficits of executive function, have been well documented as a core and early feature in Huntington's disease (HD). Cognitive impairments represent considerable burden and can be devastating for people and families affected by HD. Computerised cognitive training interventions that focus on improving executive function present a possible non-pharmacological treatment option. We propose to determine the feasibility, acceptability, and appropriate outcome measures for use in a randomised controlled feasibility study...
2018: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/29441485/clinical-spectrum-of-c9orf72-expansion-in-a-cohort-of-huntington-s-disease-phenocopies
#5
Joana Martins, Joana Damásio, Alexandre Mendes, Nuno Vila-Chã, José E Alves, Cristina Ramos, Sara Cavaco, João Silva, Isabel Alonso, Marina Magalhães
The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database. C9orf72 gene expansion was detected using repeat-primed PCR. Clinical files were reviewed to characterize the phenotype of expansion-positive cases. One patient (5%) was positive for the C9orf72 expansion...
February 13, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29437418/violation-of-bell-s-inequality-using-continuous-variable-measurements
#6
Oliver Thearle, Jiri Janousek, Seiji Armstrong, Sara Hosseini, Melanie Schünemann Mraz, Syed Assad, Thomas Symul, Matthew R James, Elanor Huntington, Timothy C Ralph, Ping Koy Lam
A Bell inequality is a fundamental test to rule out local hidden variable model descriptions of correlations between two physically separated systems. There have been a number of experiments in which a Bell inequality has been violated using discrete-variable systems. We demonstrate a violation of Bell's inequality using continuous variable quadrature measurements. By creating a four-mode entangled state with homodyne detection, we recorded a clear violation with a Bell value of B=2.31±0.02. This opens new possibilities for using continuous variable states for device independent quantum protocols...
January 26, 2018: Physical Review Letters
https://www.readbyqxmd.com/read/29435951/correction-of-huntington-s-disease-phenotype-by-genistein-induced-autophagy-in-the-cellular-model
#7
Karolina Pierzynowska, Lidia Gaffke, Aleksandra Hać, Jagoda Mantej, Natalia Niedziałek, Joanna Brokowska, Grzegorz Węgrzyn
Huntington's disease (HD) is a monogenic disorder, caused by mutations in the HTT gene which result in expansion of CAG triplets. The product of the mutated gene is misfolded huntingtin protein that forms aggregates leading to impairment of neuronal function, neurodegeneration, motor abnormalities and cognitive deficits. No effective cure is currently available for HD. Here we studied effects of genistein (trihydroxyisoflavone) on a HD cellular model consisting of HEK-293 cells transfected with a plasmid bearing mutated HTT gene...
February 12, 2018: Neuromolecular Medicine
https://www.readbyqxmd.com/read/29435796/retinal-single-layer-analysis-with-optical-coherence-tomography-shows-inner-retinal-layer-thinning-in-huntington-s-disease-as-a-potential-biomarker
#8
Duygu Gulmez Sevim, Metin Unlu, Murat Gultekin, Cagatay Karaca
PURPOSE: There have been ongoing clinical trials of therapeutic agents in Huntington's disease (HD) which requires development of reliable biomarkers of disease progression. There have been studies in the literature with conflicting results on the involvement of retina in HD, and up to date there is not a study evaluating the single retinal layers in HD. We aimed to evaluate the specific retinal changes in HD and their usability as potential disease progression markers. METHODS: This cross-sectional study used spectral-domain optical coherence tomography with automatic segmentation to measure peripapillary retinal nerve fiber layer (pRNFL) thickness and the thickness and volume of retinal layers in foveal scans of 15 patients with HD and 15 age- and sex-matched controls...
February 12, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29433734/foxo-in-neural-cells-and-diseases-of-the-nervous-system
#9
Evan E Santo, Jihye Paik
The evolutionarily conserved FOXO family of transcription factors has emerged as a significant arbiter of neural cell fate and function in mammals. From the neural stem cell (NSC) state through mature neurons under both physiological and pathological conditions, they have been found to modulate neural cell survival, stress responses, lineage commitment, and neuronal signaling. Lineage-specific FOXO knockout mice have provided an invaluable tool for the dissection of FOXO biology in the nervous system. Within the NSC compartments of the brain, FOXOs are required for the maintenance of NSC quiescence and for the clearance of reactive oxygen species...
2018: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/29433686/gastrodia-elata-alleviates-mutant-huntingtin-aggregation-through-mitochondrial-function-and-biogenesis-mediation
#10
Chuen-Lin Huang, Kaw-Chen Wang, Ying-Chen Yang, Chun-Tang Chiou, Chia-Hui Tan, Yun-Lian Lin, Nai-Kuei Huang
BACKGROUND: According to the Compendium of Materia Medica, Gastrodia elata (GE) Blume is a top-grade herbal medicine frequently used to treat dizziness, headaches, tetanus, and epilepsy, suggesting that it affects neurological functions. Although studies have supported its effects in preventing diverse neurodegenerations such as Huntington's disease (HD), its mechanisms require further investigation. PURPOSE: To investigate the ability of the molecular mechanism of GE to prevent mutant huntingtin (mHTT) protein aggregation by focusing on mitochondrial function and biogenesis, which have been proposed as the therapeutic targets of HD...
January 15, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/29432500/large-animals-as-potential-models-of-human-mental-and-behavioral-disorders
#11
REVIEW
Michał Danek, Janusz Danek, Aleksander Araszkiewicz
Many animal models in different species have been developed for mental and behavioral disorders. This review presents large animals (dog, ovine, swine, horse) as potential models of this disorders. The article was based on the researches that were published in the peer-reviewed journals. Aliterature research was carried out using the PubMed database. The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (Alzheimer's disease and Huntington's disease, pernicious anemia and hepatic encephalopathy, epilepsy, Parkinson's disease, Creutzfeldt-Jakob disease); behavioral disorders due to psychoactive substance use (alcoholic intoxication, abuse of morphine); schizophrenia and other schizotypal disorders (puerperal psychosis); mood (affective) disorders (depressive episode); neurotic, stress-related and somatoform disorders (posttraumatic stress disorder, obsessive-compulsive disorder); behavioral syndromes associated with physiological disturbances and physical factors (anxiety disorders, anorexia nervosa, narcolepsy); mental retardation (Cohen syndrome, Down syndrome, Hunter syndrome); behavioral and emotional disorders (attention deficit hyperactivity disorder)...
December 30, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/29430620/herp-promotes-degradation-of-mutant-huntingtin-involvement-of-the-proteasome-and-molecular-chaperones
#12
Huanhuan Luo, Liying Cao, Xuan Liang, Ana Du, Ting Peng, He Li
In neurodegenerative diseases, pathogenic proteins tend to misfold and form aggregates that are difficult to remove and able to induce excessive endoplasmic reticulum (ER) stress, leading to neuronal injury and apoptosis. Homocysteine-induced endoplasmic reticulum protein (Herp), an E3 ubiquitin ligase, is an important early marker of ER stress and is involved in the ubiquitination and degradation of many neurodegenerative proteins. However, in Huntington's disease (HD), a typical polyglutamine disease, whether Herp is also involved in the metabolism and degradation of the pathogenic protein, mutant huntingtin, has not been reported...
February 12, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29428949/elevated-global-dna-methylation-is-not-exclusive-to-amyotrophic-lateral-sclerosis-and-is-also-observed-in-spinocerebellar-ataxia-types-1-and-2
#13
Hamid Hamzeiy, Doruk Savaş, Ceren Tunca, Nesli Ece Şen, Aslı Gündoğdu Eken, Irmak Şahbaz, Daniela Calini, Cinzia Tiloca, Nicola Ticozzi, Antonia Ratti, Vincenzo Silani, A Nazlı Başak
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2-7% on average for sALS (p < 0...
February 9, 2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29427371/cause-or-compensation-altered-neuronal-ca2-handling-in-huntington-s-disease
#14
REVIEW
James P Mackay, Wissam B Nassrallah, Lynn A Raymond
Huntington's disease (HD) is a hereditary neurodegenerative disorder of typically middle-aged onset for which there is no disease-modifying treatment. Caudate and putamen medium-sized spiny projection neurons (SPNs) most severely degenerate in HD. However, it is unclear why mutant huntingtin protein (mHTT) is preferentially toxic to these neurons or why symptoms manifest only relatively late in life. mHTT interacts with numerous neuronal proteins. Likewise, multiple SPN cellular processes have been described as altered in various HD models...
February 9, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29427105/spinocerebellar-ataxia-type-17-sca17
#15
Yasuko Toyoshima, Hitoshi Takahashi
In 1999, a polyglutamine expansion was identified in the transcription factor TATA-binding protein (TBP) in a patient with ataxia with negative family history. Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar ataxia (SCA), establishing this repeat expansion as the underlying mutation in SCA type 17 (SCA17). There are several characteristic differences between SCA17 and other polyglutamine diseases. First, SCA17 shows a complex and variable clinical phenotype, in some cases overlapping that of Huntington's disease...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427104/molecular-mechanisms-and-therapeutic-strategies-in-spinocerebellar-ataxia-type-7
#16
Alice Karam, Yvon Trottier
Spinocerebellar Ataxia type 7 (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia and blindness. SCA7 is part of the large family of autosomal dominant cerebellar ataxias (ADCAs), and was estimated to account for 1-11.7% of ADCAs in diverse populations. The frequency of SCA7 is higher where local founder effects were observed as in Scandinavia, Korea, South Africa and Mexico. SCA7 is pathomechanistically related to the group of CAG/polyglutamine (polyQ) expansion disorders, which includes other SCAs (1-3, 6 and 17), Huntington's disease, spinal bulbar muscular atrophy and dentatorubro pallidoluysian atrophy...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427099/rna-related-pathology-in-huntington-s-disease
#17
Andreas Neueder, Gillian P Bates
This chapter summarises research investigating the expression of huntingtin sense and anti-sense transcripts, the effect of the mutation on huntingtin processing as well as the more global effect of the mutation on the coding and non-coding transcriptomes. The huntingtin gene is ubiquitously expressed, although expression levels vary between tissues and cell types. A SNP that affects NF-ĸB binding in the huntingtin promoter modulates the expression level of huntingtin transcripts and is associated with the age of disease onset...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427098/mitochondrial-dysfunction-in-huntington-s-disease
#18
Catarina Carmo, Luana Naia, Carla Lopes, A Cristina Rego
Mitochondrial dysfunction has been described as an early pathological mechanism delineating the selective neurodegeneration that occurs in Huntington's disease (HD), a polyglutamine-expansion disorder that largely affects the striatum and the cerebral cortex. Over the years, mitochondria roles in eukaryotic cells (e.g. in neurons) have largely diverged from the classically attributed cell power source; indeed, mitochondria not only contribute for synthesis of several metabolites, but are also dynamic organelles that fragment and fuse to achieve a maximal bioenergetic performance, are transported along microtubules, regulate intracellular calcium homeostasis through the interaction with the endoplasmic reticulum, produce free radicals and participate in cell death processes...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427097/genetic-rodent-models-of-huntington-disease
#19
J Stricker-Shaver, A Novati, L Yu-Taeger, H P Nguyen
The monogenic nature of Huntington disease (HD) has led to the development of a spectrum of useful genetically modified models. In particular, rodents have pioneered as the first HD model being generated and have since been the most widely used animal model for HD in both basic research and preclinical therapeutic studies. Based on the generation strategies, these rodent models can be classified into 3 major groups, the transgenic fragment models, the transgenic full-length models and the knock-in models. These models display a range of HD-like characteristics which resemble the clinical symptoms of HD patients...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427096/clinical-features-of-huntington-s-disease
#20
Rhia Ghosh, Sarah J Tabrizi
Huntington's disease (HD) is the most common monogenic neurodegenerative disease and the commonest genetic dementia in the developed world. With autosomal dominant inheritance, typically mid-life onset, and unrelenting progressive motor, cognitive and psychiatric symptoms over 15-20 years, its impact on patients and their families is devastating. The causative genetic mutation is an expanded CAG trinucleotide repeat in the gene encoding the Huntingtin protein, which leads to a prolonged polyglutamine stretch at the N-terminus of the protein...
2018: Advances in Experimental Medicine and Biology
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