keyword
MENU ▼
Read by QxMD icon Read
search

Huntingtons disease

keyword
https://www.readbyqxmd.com/read/29666090/rare-case-of-chorea-hyperglycaemia-basal-ganglia-c-h-bg-syndrome
#1
Sajjad Ahmad, Priya Mohan Babu, Lavanya Shenbagaraj, Lindsay George
An 83-year-old woman presented with acute-onset haemichorea and haemiballism particularly affecting the left side of the body. She was known to have type 2 diabetes, which was poorly controlled with sitagliptin. She was hyperglycaemic but not ketotic or acidotic. After she was started on insulin and good glycaemic control was achieved, her abnormal movements dramatically improved. MRI of the brain showed a T1-weighted hyperintense lesion on the right basal ganglia, which is typical of chorea-hyperglycaemia-basal ganglia syndrome...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29665395/label-free-colorimetric-sensor-for-sensitive-detection-of-choline-based-on-dnazyme-choline-oxidase-coupling
#2
Nasrin Nikzad, Zahra Karami
Changes in choline levels can be associated with diseases such as Alzheimer, Parkinson, Huntington, fatty liver, interstitial lung abnormalities, autism and so on. Therefore, quantitative determination of choline is important in biological and clinical analysis. So far, several methods have been investigated for measuring choline in the body fluids, each of which has disadvantages such as the need for specialist ability, complexity, and high cost. For this purpose, a facile and sensitive colorimetric biosensor based on DNAzyme-choline oxidase coupling used for the determination of choline...
April 14, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29664151/the-receptor-for-advanced-glycation-endproducts-is-a-mediator-of-toxicity-by-iapp-and-other-proteotoxic-aggregates-establishing-and-exploiting-common-ground-for-novel-amyloidosis-therapies
#3
REVIEW
Andisheh Abedini, Julia Derk, Ann Marie Schmidt
Proteotoxicity plays a key role in many devastating human disorders, including Alzheimer's, Huntington's and Parkinson's diseases; type 2 diabetes; systemic amyloidosis; and cardiac dysfunction, to name a few. The cellular mechanisms of proteotoxicity in these disorders have been the focus of considerable research, but their role in prevalent and morbid disorders, such as diabetes, is less appreciated. There is a large body of literature on the impact of glucotoxicity and lipotoxicity on insulin-producing pancreatic β-cells, and there is increasing recognition that proteotoxicty plays a key role...
April 17, 2018: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/29663942/longitudinal-anthropometric-assessment-of-rhesus-macaque-macaca-mulatta-model-of-huntington-disease
#4
Carissa E Hunter, Alvince L Pongos, Tim Y Chi, Christa Payne, Fawn C Stroud, Anthony W S Chan
The neurodegeneration associated with Huntington disease (HD) leads to the onset of motor and cognitive impairment and their advancement with increased age in humans. In children at risk for HD, body measurement growth abnormalities include a reduction in BMI, weight, height, and head circumference. The transgenic HD NHP model was first reported in 2008, and progressive decline in cognitive behaviors and motor impairment have been reported. This study focuses on longitudinal body measurements in HD macaques from infancy through adulthood...
April 2, 2018: Comparative Medicine
https://www.readbyqxmd.com/read/29660633/objective-assessment-of-gait-and-posture-in-premanifest-and-manifest-huntington-disease-a-multi-center-study
#5
Heike Beckmann, Stefan Bohlen, Carsten Saft, Rainer Hoffmann, Joachim Gerss, Lisa Muratori, E Bernd Ringelstein, G Bernhard Landwehrmeyer, Ralf Reilmann
BACKGROUND: Deficits in posture and gait are known to contribute to the complex motor phenotype of Huntington disease (HD). Objective and quantitative measures of posture and gait provided by posturography and GAITRite® assessments may supplement categorical rating scales such as the UHDRS-TMS and increase power and sensitivity of clinical trials. OBJECTIVES: To investigate whether posturography and GAITRite® measures reveal (1) changes in manifest or premanifest HD mutation-carriers, (2) a correlation to the UHDRS-TMS and functional measures in manifest HD, and (3) a correlation to the disease-burden-score (based on CAG-repeat-length and age)...
April 7, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29657306/hypoxia-induced-microrna-210-targets-neurodegenerative-pathways
#6
Michelle E Watts, Sarah M Williams, Jess Nithianantharajah, Charles Claudianos
Hypoxia-regulated microRNA-210 (miR-210) is a highly conserved microRNA, known to regulate various processes under hypoxic conditions. Previously we found that miR-210 is also involved in honeybee learning and memory, raising the questions of how neural activity may induce hypoxia-regulated genes and how miR-210 may regulate plasticity in more complex mammalian systems. Using a pull-down approach, we identified 620 unique target genes of miR-210 in humans, among which there was a significant enrichment of age-related neurodegenerative pathways, including Huntington's, Alzheimer's, and Parkinson's diseases...
March 27, 2018: Non-Coding RNA
https://www.readbyqxmd.com/read/29652574/transcriptomic-biomarkers-for-huntington-s-disease-are-gene-expression-signatures-in-whole-blood-reliable-biomarkers
#7
Maja Zadel, Aleš Maver, Anja Kovanda, Borut Peterlin
Huntington's disease (HD) is a severe neurodegenerative disorder manifesting as progressive impairment of motor function, cognitive decline, psychiatric symptoms, and immunological and endocrine dysfunction. We explored the consistency of blood transcriptomic biomarkers in HD based on a novel Slovene patient cohort and expert review of previous studies. HumanHT-12 v4 BeadChip microarrays were performed on the whole blood samples of a cohort of 23 HD mutation carriers and 23 controls to identify differentially expressed (DE) transcripts...
April 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29651271/genetics-modulate-gray-matter-variation-beyond-disease-burden-in-prodromal-huntington-s-disease
#8
Jingyu Liu, Jennifer Ciarochi, Vince D Calhoun, Jane S Paulsen, H Jeremy Bockholt, Hans J Johnson, Jeffrey D Long, Dongdong Lin, Flor A Espinoza, Maria B Misiura, Arvind Caprihan, Jessica A Turner
Huntington's disease (HD) is a neurodegenerative disorder caused by an expansion mutation of the cytosine-adenine-guanine (CAG) trinucleotide in the HTT gene. Decline in cognitive and motor functioning during the prodromal phase has been reported, and understanding genetic influences on prodromal disease progression beyond CAG will benefit intervention therapies. From a prodromal HD cohort ( N  = 715), we extracted gray matter (GM) components through independent component analysis and tested them for associations with cognitive and motor functioning that cannot be accounted for by CAG-induced disease burden (cumulative effects of CAG expansion and age)...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29650257/neuropeptide-y-mitigates-er-stress-induced-neuronal-cell-death-by-activating-the-pi3k-xbp1-pathway
#9
Do Yeon Lee, Seung Hyun Hong, Bokyung Kim, Dong-Seok Lee, Kweon Yu, Kyu-Sun Lee
The unfolded protein response (UPR) is an evolutionarily conserved adaptive reaction that increases cell survival under endoplasmic reticulum (ER) stress conditions. ER stress-associated neuronal cell death pathways play roles in the pathogenesis of neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's disease. Neuropeptide Y (NPY) has an important role in neuroprotection against neurodegenerative diseases. In this study, we investigated whether NPY has a protective role in ER stress-induced neuronal cell death in SK-N-SH human neuroblastoma cells...
April 6, 2018: European Journal of Cell Biology
https://www.readbyqxmd.com/read/29643462/environment-dependent-striatal-gene-expression-in-the-bachd-rat-model-for-huntington-disease
#10
Arianna Novati, Thomas Hentrich, Zinah Wassouf, Jonasz J Weber, Libo Yu-Taeger, Nicole Déglon, Huu Phuc Nguyen, Julia M Schulze-Hentrich
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (HTT) gene which results in progressive neurodegeneration in the striatum, cortex, and eventually most brain areas. Despite being a monogenic disorder, environmental factors influence HD characteristics. Both human and mouse studies suggest that mutant HTT (mHTT) leads to gene expression changes that harbor potential to be modulated by the environment. Yet, the underlying mechanisms integrating environmental cues into the gene regulatory program have remained largely unclear...
April 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29643420/publisher-correction-alteration-in-fluidity-of-cell-plasma-membrane-in-huntington-disease-revealed-by-spectral-phasor-analysis
#11
Sara Sameni, Leonel Malacrida, Zhiqun Tan, Michelle A Digman
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
April 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29628395/hpsc-derived-striatal-cells-generated-using-a-scalable-3d-hydrogel-promote-recovery-in-a-huntington-disease-mouse-model
#12
Maroof M Adil, Thomas Gaj, Antara T Rao, Rishikesh U Kulkarni, Christina M Fuentes, Gokul N Ramadoss, Freja K Ekman, Evan W Miller, David V Schaffer
Huntington disease (HD) is an inherited, progressive neurological disorder characterized by degenerating striatal medium spiny neurons (MSNs). One promising approach for treating HD is cell replacement therapy, where lost cells are replaced by MSN progenitors derived from human pluripotent stem cells (hPSCs). While there has been remarkable progress in generating hPSC-derived MSNs, current production methods rely on two-dimensional culture systems that can include poorly defined components, limit scalability, and yield differing preclinical results...
April 3, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29627459/tadpole-like-conformations-of-huntingtin-exon-1-are-characterized-by-conformational-heterogeneity-that-persists-regardless-of-polyglutamine-length
#13
Estella A Newcombe, Kiersten M Ruff, Ashish Sethi, Angelique R Ormsby, Yasmin M Ramdzan, Archa Fox, Anthony W Purcell, Paul R Gooley, Rohit V Pappu, Danny M Hatters
Soluble huntingtin exon 1 (Httex1) with expanded polyglutamine (polyQ) engenders neurotoxicity in Huntington's disease. To uncover the physical basis of this toxicity, we performed structural studies of soluble Httex1 for wild type and mutant polyQ lengths. Nuclear magnetic resonance experiments show evidence for conformational rigidity across the polyQ region. In contrast, hydrogen-deuterium exchange shows absence of backbone amide protection, suggesting negligible persistence of hydrogen bonds. The seemingly conflicting results are explained by all-atom simulations, which show that Httex1 adopts tadpole-like structures with a globular head encompassing the N-terminal amphipathic and polyQ regions and the tail encompassing the C-terminal proline-rich region...
April 5, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29626325/what-to-do-with-a-second-chance-in-life-long-term-experiences-of-non-carriers-of-huntington-s-disease
#14
Elisabeth Winnberg, Ulrika Winnberg, Lilian Pohlkamp, Anette Hagberg
Little is known about how people's lives are influenced when going from a 50% risk status of Huntington's disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children...
April 7, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29625216/receptor-for-advanced-glycation-end-products-rage-is-expressed-predominantly-in-medium-spiny-neurons-of-tghd-rat-striatum
#15
Dian Shi, Joshua W H Chang, Jaimin Choi, Bronwen Connor, Simon O'Carroll, Louise F B Nicholson, Joo Hyun Kim
Receptor for advanced glycation end products (RAGE) is a multi-ligand receptor involved in the pathology of several progressive neurodegenerative disorders including Huntington's disease (HD). We previously showed that the expression of RAGE and its colocalization with ligands were increased in the striatum of HD patients, increasing with grade severity, and that the pattern of RAGE expression coincided with the medio-lateral pattern of neurodegeneration. However, the exact role of RAGE in HD remains elusive...
April 3, 2018: Neuroscience
https://www.readbyqxmd.com/read/29625173/brain-mitochondrial-iron-accumulates-in-huntington-s-disease-mediates-mitochondrial-dysfunction-and-can-be-removed-pharmacologically
#16
Sonal Agrawal, Julia Fox, Baskaran Thyagarajan, Jonathan Fox
Mitochondrial bioenergetic dysfunction is involved in neurodegeneration in Huntington's disease (HD). Iron is critical for normal mitochondrial bioenergetics but can also contribute to pathogenic oxidation. The accumulation of iron in the brain occurs in mouse models and in human HD. Yet the role of mitochondria-related iron dysregulation as a contributor to bioenergetic pathophysiology in HD is unclear. We demonstrate here that human HD and mouse model HD (12-week R6/2 and 12-month YAC128) brains accumulated mitochondrial iron and showed increased expression of iron uptake protein mitoferrin 2 and decreased iron-sulfur cluster synthesis protein frataxin...
April 3, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29623030/on-the-role-of-store-operated-calcium-entry-in-acute-and-chronic-neurodegenerative-diseases
#17
REVIEW
Agnese Secondo, Giacinto Bagetta, Diana Amantea
In both excitable and non-excitable cells, calcium (Ca2+ ) signals are maintained by a highly integrated process involving store-operated Ca2+ entry (SOCE), namely the opening of plasma membrane (PM) Ca2+ channels following the release of Ca2+ from intracellular stores. Upon depletion of Ca2+ store, the stromal interaction molecule (STIM) senses Ca2+ level reduction and migrates from endoplasmic reticulum (ER)-like sites to the PM where it activates the channel proteins Orai and/or the transient receptor potential channels (TRPC) prompting Ca2+ refilling...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29621490/an-optical-neuron-astrocyte-proximity-assay-at-synaptic-distance-scales
#18
J Christopher Octeau, Hua Chai, Ruotian Jiang, Shivan L Bonanno, Kelsey C Martin, Baljit S Khakh
Astrocytes are complex bushy cells that serve important functions through close contacts between their processes and synapses. However, the spatial interactions and dynamics of astrocyte processes relative to synapses have proven problematic to study in adult living brain tissue. Here, we report a genetically targeted neuron-astrocyte proximity assay (NAPA) to measure astrocyte-synapse spatial interactions within intact brain preparations and at synaptic distance scales. The method exploits resonance energy transfer between extracellularly displayed fluorescent proteins targeted to synapses and astrocyte processes...
April 4, 2018: Neuron
https://www.readbyqxmd.com/read/29620999/dose-dependent-lowering-of-mutant-huntingtin-using-antisense-oligonucleotides-in-huntington-disease-patients
#19
Willeke M C van Roon-Mom, Raymund A C Roos, Susanne T de Bot
On December 11 of 2017, Ionis Pharmaceuticals published a press release announcing dose-dependent reductions of mutant huntingtin protein in their HTTRx Phase 1/2a study in Huntington disease (HD) patients. The results from this Ionis trial have gained much attention from the patient community and the oligonucleotide therapeutics field, since it is the first trial targeting the cause of HD, namely the mutant huntingtin protein, using antisense oligonucleotides (ASOs). The press release also states that the primary endpoints of the study (safety and tolerability) were met, but does not contain data...
April 2018: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/29620406/visual-scanning-of-the-eye-region-of-human-faces-predicts-emotion-recognition-performance-in-huntington-s-disease
#20
Catarina C Kordsachia, Izelle Labuschagne, Julie C Stout
OBJECTIVE: Previous research has consistently shown that the ability to recognize emotions from facial expressions is impaired in Huntington's disease (HD). The aim of this study was to examine whether people with the gene expansion for HD visually scan the most emotionally informative features of human faces less than unaffected individuals, and whether altered visual scanning predicts emotion recognition in HD beyond general disease-related decline. METHOD: We recorded eye movements of 25 participants either in the late premanifest or early stage of HD and 25 age-matched healthy control participants during a face-viewing task...
March 2018: Neuropsychology
keyword
keyword
55264
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"