keyword
MENU ▼
Read by QxMD icon Read
search

Huntington's

keyword
https://www.readbyqxmd.com/read/28550267/amyloid-precursor-protein-haploinsufficiency-preferentially-mediates-brain-iron-accumulation-in-mice-transgenic-for-the-huntington-s-disease-mutation
#1
Kiersten Berggren, Sonal Agrawal, Julia A Fox, Justin Hildenbrand, Ryan Nelson, Ashley I Bush, Jonathan H Fox
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder caused by a CAG expansion in the huntingtin gene that results in expression of mutant huntingtin protein. Iron accumulates in HD brain neurons. Amyloid precursor protein (APP) promotes neuronal iron export. However, the role of APP in brain iron accumulation in HD is unclear. OBJECTIVE: To determine the effects of APP insufficiency on HD in YAC128 mice. METHODS: We crossed APP hemizygous mice (APP+/-) with YAC128 mice that are transgenic (Tg) for human mutant huntingtin (hmHTT) to generate APP+/+ hmHTT-/-, APP+/- hmHTT-/-, APP+/+ hmHTT+/- and APP+/- hmHTT+/- progeny...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550266/assessing-decline-visualising-progression-in-huntington-s-disease-using-a-clinical-dashboard-with-enroll-hd-data
#2
Thomas Walker, Boyd Ghosh, Christopher Kipps
BACKGROUND: In Huntington's disease (HD), it remains unclear how symptom severity and rate of symptomatic change relates to age and CAG repeat number (CAGn). It is often difficult for clinicians to assess whether an affected individual's symptoms are progressing at a similar rate to their affected peers, limiting their ability to intervene at the most appropriate time. OBJECTIVE: To develop a clinical dashboard that compares an individual's total motor score (TMS), total functional capacity (TFC) and symbol digit modality test (SDMT) scores against a global cohort, controlling for age and CAGn...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550168/reduced-expression-of-foxp1-as-a-contributing-factor-in-huntington-s-disease
#3
Anto Sam Crosslee Louis Sam Titus, Tanzeen Yusuff, Marlène Cassar, Elizabeth Thomas, Doris Kretzschmar, Santosh R D'Mello
Huntington's disease (HD) is an inherited neurodegenerative disease caused by a polyglutamine expansion in the huntington protein (htt). The neuropathological hallmark of HD is the loss of neurons in the striatum and, to a lesser extent, in the cortex. Foxp1 is a member of the Forkhead family of transcription factors expressed selectively in the striatum and the cortex. In the brain, three major Foxp1 isoforms are expressed - isoform-A (∼90 kDa), isoform-D (∼70 kDa) and isoform-C (∼50 kDa). We find that expression of Foxp1 isoforms A and D is selectively reduced in the striatum and cortex of R6/2 HD mice as well as in the striatum of HD patients...
May 26, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28549648/characterization-of-long-term-gait-deficits-in-mouse-dmcao-using-the-catwalk-system
#4
E Caballero-Garrido, J C Pena-Philippides, Z Galochkina, E Erhardt, T Roitbak
Evaluation of functional outcome is widely used across species to assess the recovery process following various pathological conditions, including spinal cord injury, musculo-skeletal injury, mithochondrial disease, neuropathic cancer, Huntington's disease, chronic pain, cortical lesion, and olivocerebellar degeneration among others. The Stroke Therapy Academic Industry Roundtable (STAIR) recommends multiple endpoints for behavioral studies in pre-clinical stroke research, to demonstrate their clinical relevance...
May 23, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28549075/age-of-onset-in-huntington-s-disease-is-influenced-by-cag-repeat-variations-in-other-polyglutamine-disease-associated-genes
#5
Geerte Stuitje, Martine J van Belzen, Sarah L Gardiner, Willeke M C van Roon-Mom, Merel W Boogaard, Sarah J Tabrizi, Raymund A C Roos, N A Aziz
No abstract text is available yet for this article.
May 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28542379/disease-related-gene-module-detection-based-on-a-multi-label-propagation-clustering-algorithm
#6
Xue Jiang, Han Zhang, Xiongwen Quan, Zhandong Liu, Yanbin Yin
Detecting disease-related gene modules by analyzing gene expression data is of great significance. It is helpful for exploratory analysis of the interaction mechanisms of genes under complex disease phenotypes. The multi-label propagation algorithm (MLPA) has been widely used in module detection for its fast and easy implementation. The accuracy of MLPA greatly depends on the connections between nodes, and most existing research focuses on measuring the similarity between nodes. However, MLPA does not perform well with loose connections between disease-related genes...
2017: PloS One
https://www.readbyqxmd.com/read/28541476/7-8-dihydroxyflavone-ameliorates-cognitive-and-motor-deficits-in-a-huntington-s-disease-mouse-model-through-specific-activation-of-the-plc%C3%AE-1-pathway
#7
Gerardo García-Díaz Barriga, Albert Giralt, Marta Anglada-Huguet, Nuria Gaja-Capdevila, Javier G Orlandi, Jordi Soriano, Josep-Maria Canals, Jordi Alberch
Huntington's disease (HD) is a fatal neurodegenerative disease with motor, cognitive and psychiatric impairment. Dysfunctions in HD models have been related to reduced levels of striatal brain-derived neurotrophic factor (BDNF) and imbalance between its receptors TrkB and p75(NTR). Thus, molecules with activity on the BDNF/TrkB/p75 system can have therapeutic potential. 7,8-Dihydroxyflavone (7,8-DHF) was described as a TrkB agonist in several models of neuro-degenerative diseases, however, its TrkB activation profile needs further investigation due to its pleiotropic properties and divergence from BDNF effect...
May 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28539682/the-human-body-as-an-energetic-hybrid-new-perspectives-for-chronic-disease-treatment
#8
REVIEW
Michał Gajewski, Przemysław Rzodkiewicz, Sławomir Maśliński
Inflammatory response is accompanied by changes in cellular energy metabolism. Proinflammatory mediators like plasma C-reactive protein, IL-6, plasminogen activator inhibitor-1, TNF-α or monocyte chemoattractant protein-1 released in the site of inflammation activates immune cells and increase energy consumption. Increased demand for energy creates local hypoxia and lead in consequence to mitochondrial dysfunction. Metabolism of cells is switched to anaerobic glycolysis. Mitochondria continuously generate free radicals that what result in imbalance that causes oxidative stress, which results in oxidative damage...
2017: Reumatologia
https://www.readbyqxmd.com/read/28539486/how-and-why-do-toxic-conformers-of-aberrant-proteins-accumulate-during-ageing
#9
REVIEW
Rebecca Josefson, Rebecca Andersson, Thomas Nyström
Ageing can be defined as a gradual decline in cellular and physical functions accompanied by an increased sensitivity to the environment and risk of death. The increased risk of mortality is causally connected to a gradual, intracellular accumulation of so-called ageing factors, of which damaged and aggregated proteins are believed to be one. Such aggregated proteins also contribute to several age-related neurodegenerative disorders e.g. Alzheimer's, Parkinson's, and Huntington's diseases, highlighting the importance of protein quality control (PQC) in ageing and its associated diseases...
May 24, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/28537433/aspirin-mediated-acetylation-protects-against-multiple-neurodegenerative-pathologies-by-impeding-protein-aggregation
#10
Srinivas Ayyadevara, Meenakshisundaram Balasubramaniam, Ramani Alla, J L Mehta, Robert J Shmookler Reis
AIMS: Many progressive neurological disorders, including Alzheimer's, Huntington's, and Parkinson's diseases, are characterized by accumulation of insoluble protein aggregates. In prospective trials, the cyclooxygenase inhibitor aspirin (acetylsalicylic acid) reduced the risk of Alzheimer's and Parkinson's diseases, as well as cardiovascular events and many late-onset cancers. In view of previous evidence that inflammation promotes protein hyperphosphorylation and aggregation in neurodegenerative diseases, we asked whether aspirin's known ability to block phosphorylation may be secondary to its acetylation of protein targets...
May 24, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28537272/fibril-polymorphism-affects-immobilized-non-amyloid-flanking-domains-of-huntingtin-exon1-rather-than-its-polyglutamine-core
#11
Hsiang-Kai Lin, Jennifer C Boatz, Inge E Krabbendam, Ravindra Kodali, Zhipeng Hou, Ronald Wetzel, Amalia M Dolga, Michelle A Poirier, Patrick C A van der Wel
Polyglutamine expansion in the huntingtin protein is the primary genetic cause of Huntington's disease (HD). Fragments coinciding with mutant huntingtin exon1 aggregate in vivo and induce HD-like pathology in mouse models. The resulting aggregates can have different structures that affect their biochemical behaviour and cytotoxic activity. Here we report our studies of the structure and functional characteristics of multiple mutant htt exon1 fibrils by complementary techniques, including infrared and solid-state NMR spectroscopies...
May 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28537071/clmsvault-a-software-suite-for-protein-cross-linking-mass-spectrometry-data-analysis-and-visualization
#12
Mathieu Courcelles, Jasmin Coulombe-Huntington, Émilie Cossette, Anne-Claude Gingras, Pierre Thibault, Michael Tyers
Protein cross-linking mass spectrometry (CL-MS) enables the sensitive detection of protein interactions and the inference of protein complex topology. The detection of chemical cross-links between protein residues can identify intra- and inter-protein contact sites and/or provide physical constraints for molecular modeling of protein structure. Recent innovations in cross-linker design, sample preparation, mass spectrometry and software tools have significantly improved CL-MS approaches. Although a number of algorithms now exist for the identification of cross-linked peptides from mass spectral data, a dearth of user-friendly analysis tools represent a practical bottleneck to the broad adoption of the approach...
May 24, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28536362/functionalisation-of-polyvinylpyrrolidone-on-gold-nanoparticles-enhances-its-anti-amyloidogenic-propensity-towards-hen-egg-white-lysozyme
#13
Tulika Das, Vidyalatha Kolli, Srijeeb Karmakar, Nandini Sarkar
Protein amyloids are characterized by aggregates that usually consist of fibres containing misfolded proteins and having a cross β-sheet conformation. These aggregates can eventually lead to several degenerative diseases like Alzheimer's disease, amyotrophic lateral sclerosis (ALS), Huntington's disease and Parkinson's disease. The present study describes the effect of chemically synthesized polyvinylpyrrolidone (PVP)-conjugated gold nanoparticles (PVP-AuNps) on hen egg white lysozyme (HEWL) amyloids. The synthesized nanoparticles have been characterized using various biophysical techniques like Ultraviolet-Visible (UV-Vis) Spectroscopy, Transmission electron microscopy (TEM), X-ray diffraction (XRD) analysis, dynamic light scattering (DLS), zeta-potential measurement and Fourier transform infrared spectroscopy (FTIR)...
May 3, 2017: Biomedicines
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#14
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533744/pin1-modulates-huntingtin-levels-and-aggregate-accumulation-an-in-vitro-model
#15
Alisia Carnemolla, Silvia Michelazzi, Elena Agostoni
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder characterized by a polyglutamine expansion within the N-terminal region of huntingtin protein (HTT). Cellular mechanisms promoting mutant huntingtin (mHTT) clearance are of great interest in HD pathology as they can lower the level of the mutant protein and its toxic aggregated species, thus affecting disease onset and progression. We have previously shown that the prolyl-isomerase PIN1 represents a promising negative regulator of mHTT aggregate accumulation using a genetically precise HD mouse model, namely Hdh(Q111) mice...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28533375/keap1-modifying-small-molecule-reveals-muted-nrf2-signaling-responses-in-neural-stem-cells-from-huntington-s-disease-patients
#16
Luisa Quinti, Sharadha Dayalan Naidu, Ulrike Träger, Xiqun Chen, Kimberly Kegel-Gleason, David Llères, Colúm Connolly, Vanita Chopra, Cho Low, Sébastien Moniot, Ellen Sapp, Adelaide R Tousley, Petr Vodicka, Michael J Van Kanegan, Linda S Kaltenbach, Lisa A Crawford, Matthew Fuszard, Maureen Higgins, James R C Miller, Ruth E Farmer, Vijay Potluri, Susanta Samajdar, Lisa Meisel, Ningzhe Zhang, Andrew Snyder, Ross Stein, Steven M Hersch, Lisa M Ellerby, Eranthie Weerapana, Michael A Schwarzschild, Clemens Steegborn, Blair R Leavitt, Alexei Degterev, Sarah J Tabrizi, Donald C Lo, Marian DiFiglia, Leslie M Thompson, Albena T Dinkova-Kostova, Aleksey G Kazantsev
The activity of the transcription factor nuclear factor-erythroid 2 p45-derived factor 2 (NRF2) is orchestrated and amplified through enhanced transcription of antioxidant and antiinflammatory target genes. The present study has characterized a triazole-containing inducer of NRF2 and elucidated the mechanism by which this molecule activates NRF2 signaling. In a highly selective manner, the compound covalently modifies a critical stress-sensor cysteine (C151) of the E3 ligase substrate adaptor protein Kelch-like ECH-associated protein 1 (KEAP1), the primary negative regulator of NRF2...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28532681/resveratrol-protects-neuronal-like-cells-expressing-mutant-huntingtin-from-dopamine-toxicity-by-rescuing-atg4-mediated-autophagosome-formation
#17
Chiara Vidoni, Eleonora Secomandi, Andrea Castiglioni, Mariarosa A B Melone, Ciro Isidoro
Parkinsonian-like motor deficits in Huntington's Disease (HD) patients are associated with abnormal dopamine neurotransmission in the striatum. Dopamine metabolism leads to the formation of oxidized dopamine quinones that exacerbates mitochondrial dysfunction with production of reactive oxygen species (ROS) that eventually lead to neuronal cell death. We have previously shown that dopamine-induced oxidative stress triggers apoptotic cell death in dopaminergic neuroblastoma SH-SY5Y cells hyper-expressing the mutant polyQ Huntingtin (polyQ-Htt) protein...
May 19, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28528357/cerebellar-gray-matter-alterations-in-huntington-disease-a-voxel-based-morphometry-study
#18
Paula C de Azevedo, Rachel P Guimarães, Camila C Piccinin, Luiza G Piovesana, Lidiane S Campos, Juliana R Zuiani, Eliza M Tamashiro, Giordanna Pinheiro, Augusto C Amato-Filho, Fernando Cendes, Iscia Lopes-Cendes, Anelyssa D'Abreu
Neuropathological and neuroimaging studies in Huntington disease (HD) have suggested a role for the cerebellum. Our goal was to perform a detailed evaluation of cerebellar morphology. We performed the Unified HD rating scale (UHDRS) and Montreal cognitive assessment (MOCA) in 26 HD patients and 26 healthy controls. We created a two-sample test to analyze cerebellar gray matter (GM) differences between groups and another to correlate GM alterations with UHDRS and MOCA, corrected for age, expanded cytosine-adenine-guanine repeats, and disease duration using the spatially unbiased atlas template (SUIT)-SPM-toolbox which preserves anatomical detailing...
May 20, 2017: Cerebellum
https://www.readbyqxmd.com/read/28524679/transition-from-collisional-to-collisionless-regimes-in-interpenetrating-plasma-flows-on-the-national-ignition-facility
#19
J S Ross, D P Higginson, D Ryutov, F Fiuza, R Hatarik, C M Huntington, D H Kalantar, A Link, B B Pollock, B A Remington, H G Rinderknecht, G F Swadling, D P Turnbull, S Weber, S Wilks, D H Froula, M J Rosenberg, T Morita, Y Sakawa, H Takabe, R P Drake, C Kuranz, G Gregori, J Meinecke, M C Levy, M Koenig, A Spitkovsky, R D Petrasso, C K Li, H Sio, B Lahmann, A B Zylstra, H-S Park
A study of the transition from collisional to collisionless plasma flows has been carried out at the National Ignition Facility using high Mach number (M>4) counterstreaming plasmas. In these experiments, CD-CD and CD-CH planar foils separated by 6-10 mm are irradiated with laser energies of 250 kJ per foil, generating ∼1000  km/s plasma flows. Varying the foil separation distance scales the ion density and average bulk velocity and, therefore, the ion-ion Coulomb mean free path, at the interaction region at the midplane...
May 5, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28524601/huntington-s-disease-with-severe-neck-infection
#20
Shunsuke Hino, Takahiro Kaneko, Norio Horie, Tetsuo Shimoyama
OBJECTIVE: To present a case of Huntington's disease (HD) with severe neck infection. BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative genetic disorder and is often accompanied by dysphagia. MATERIALS AND METHODS: The patient was a 64-year-old man with HD. The severe neck infection was considered as one of the symptoms of HD. CONCLUSION: Clinicians should remember that patients with HD are apt to delay dental consultation, resulting in serious oral infections...
May 19, 2017: Gerodontology
keyword
keyword
18527
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"