keyword
MENU ▼
Read by QxMD icon Read
search

Huntingtons disease

keyword
https://www.readbyqxmd.com/read/29054021/qprtase-modified-n-doped-carbon-quantum-dots-a-fluorescent-bioprobe-for-selective-detection-of-neurotoxin-quinolinic-acid-in-human-serum
#1
Ranjana Singh, Sunayana Kashayap, Vimal Singh, Arvind M Kayastha, Hirdyesh Mishra, Preeti Suman Saxena, Anchal Srivastava, Ranjan K Singh
Highly fluorescent nitrogen doped carbon quantum dots (NCQDs) were synthesized using microwave assisted green method. It was characterized by Transmission Electron Microscopy (TEM), FTIR, UV-Visible absorption and Photoluminiscence (PL) techniques. The NCQDs were immobilized with an enzyme named quinolinate phoshphoribosyl transferase (QPRTase). The NCQDs immobilized by QPRTase was used as a fluorescent bioprobe for the selective detection of endogenous neurotoxin quinolinic acid (QA) whose elevated level in serum is marker of many neurological disorders such as Alzheimer's, Huntington's and HIV associated dementia (HAD) as well as deficiency of vitamin B6...
October 10, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29050388/patients-with-huntington-s-disease-pioneered-human-stereotactic-neurosurgery-70-years-ago
#2
Marwan Hariz, Sarah Tabrizi
No abstract text is available yet for this article.
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050385/pope-francis-champions-huntington-s-disease
#3
Laura Spinney
No abstract text is available yet for this article.
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049853/nutrient-driven-o-glcnac-in-proteostasis-and-neurodegeneration
#4
REVIEW
Ilhan Akan, Stephanie Olivier-Van Stichelen, Michelle R Bond, John A Hanover
Proteostasis is essential in the mammalian brain where post-mitotic cells must function for decades to maintain synaptic contacts and memory. The brain is dependent on glucose and other metabolites for proper function and is spared from metabolic deficits even during starvation. In this review, we outline how the nutrient sensitive nucleocytoplasmic posttranslational modification O-linked N-acetylglucosamine (O-GlcNAc) regulates protein homeostasis. The O-GlcNAc modification is highly abundant in the mammalian brain, and has been linked to proteopathies, including neurodegenerative diseases such as Alzheimer's, Parkinson's, and Huntington's...
October 19, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29048302/pre-symptomatic-testing-for-neurodegenerative-disorders-middle-to-long-term-psychopathological-impact
#5
Susana Lêdo, Ângela Leite, Teresa Souto, Maria A Pimenta Dinis, Jorge Sequeiros
BACKGROUND: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP). METHOD: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD...
November 2017: Psicothema
https://www.readbyqxmd.com/read/29048243/mithramycin-a-improves-functional-recovery-by-inhibiting-bscb-disruption-and-hemorrhage-after-spinal-cord-injury
#6
Jee Youn Lee, Hye Y Choi, Chan S Park, Bong G Ju, Tae Y Yune
After spinal cord injury (SCI), blood spinal cord barrier (BSCB) disruption and progressive hemorrhage lead to secondary injury, subsequent apoptosis and/or necrosis of neuron and glia, causing permanent neurological deficits. Growing evidences indicate that mithramycin A (MA), an anticancer drug, has neuroprotective effects in ischemic brain injury and Huntington's disease. However, the precise mechanism underlying its protective effects is largely unknown. Here, we examined the effect of MA on BSCB breakdown and hemorrhage as well as subsequent inflammation after SCI...
October 19, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29046994/peripheral-markers-of-autophagy-in-polyglutamine-diseases
#7
Giorgia Puorro, Angela Marsili, Francesca Sapone, Chiara Pane, Anna De Rosa, Peluso Silvio, Giuseppe De Michele, Alessandro Filla, Francesco Saccà
Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington's disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0...
October 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29043929/a-survey-based-study-identifies-common-but-unrecognized-symptoms-in-a-large-series-of-juvenile-huntington-s-disease
#8
Amelia D Moser, Eric Epping, Patricia Espe-Pfeifer, Erin Martin, Leah Zhorne, Katherine Mathews, Martha Nance, Denise Hudgell, Oliver Quarrell, Peg Nopoulos
AIM: The symptoms of Huntington's disease are well known, yet the symptoms of juvenile Huntington's disease (JHD) are less established due to its rarity. The study examined a cluster of symptoms considered to be common, but under-recognized in JHD: pain, itching, sleeping difficulties, psychosis and tics. MATERIALS & METHODS: A symptom survey was constructed using the online tool Qualtrics and dispersed to JHD caregivers through websites. RESULTS: A total of 33 surveys were completed...
October 18, 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29043641/measuring-dynamic-behavior-of-trinucleotide-repeat-tracts-in-vivo-in-saccharomyces-cerevisiae
#9
Gregory M Williams, Jennifer A Surtees
Trinucleotide repeat (TNR) tracts are inherently unstable during DNA replication, leading to repeat expansions and/or contractions. Expanded tracts are the cause of over 40 neurodegenerative and neuromuscular diseases. In this chapter, we focus on the (CNG)n repeat sequences that, when expanded, lead to Huntington's disease (HD), myotonic dystrophy type 1 (DM1), and a number of other neurodegenerative diseases. We describe a series of in vivo assays, using the model system Saccharomyces cerevisiae, to determine and characterize the dynamic behavior of TNR tracts that are in the early stages of expansion, i...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29037340/-neuropsychiatry-of-movement-disorders
#10
Juan Manuel Orjuela-Rojas, Gustavo Adolfo Barrios Vincos, Melisa Alejandra Martínez Gallego
Movement disorders can be defined as neurological syndromes presenting with excessive or diminished automatic or voluntary movements not related to weakness or spasticity. Both Parkinson's disease (PD) and Huntington's disease (HD) are well-known examples of these syndromes. The high prevalence of comorbid psychiatric symptoms like depression, anxiety, obsessive-compulsive symptoms, hallucinations, delusions, impulsivity, sleep disorders, apathy and cognitive impairment mean that these conditions must be regarded as neuropsychiatric diseases...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29037056/-neuroacanthocytosis-diagnosis-with-new-generation-whole-exome-sequencing
#11
Kinga Hadzsiev, Mónika Szőts, Anett Fekete, László Balikó, Kim Boycott, Ferenc Nagy, Béla Melegh
In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. The aim of this article is to draw attention on the importance of the WES in the diagnosis of rare neurological diseases without any specific symptoms...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29036832/neuropathological-comparison-of-adult-onset-and-juvenile-huntington-s-disease-with-cerebellar-atrophy-a-report-of%C3%A2-a%C3%A2-father-and-son
#12
Caitlin S Latimer, Margaret E Flanagan, Patrick J Cimino, Suman Jayadev, Marie Davis, Zachary S Hoffer, Thomas J Montine, Luis F Gonzalez-Cuyar, Thomas D Bird, C Dirk Keene
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline...
October 11, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29035839/insights-into-protein-misfolding-and-aggregation-enabled-by-solid-state-nmr-spectroscopy
#13
REVIEW
Patrick C A van der Wel
The aggregation of proteins and peptides into a variety of insoluble, and often non-native, aggregated states plays a central role in many devastating diseases. Analogous processes undermine the efficacy of polypeptide-based biological pharmaceuticals, but are also being leveraged in the design of biologically inspired self-assembling materials. This Trends article surveys the essential contributions made by recent solid-state NMR (ssNMR) studies to our understanding of the structural features of polypeptide aggregates, and how such findings are informing our thinking about the molecular mechanisms of misfolding and aggregation...
October 4, 2017: Solid State Nuclear Magnetic Resonance
https://www.readbyqxmd.com/read/29033839/schisandra-chinensis-stem-ameliorates-3-nitropropionic-acid-induced-striatal-toxicity-via-activation-of-the-nrf2-pathway-and-inhibition-of-the-mapks-and-nf-%C3%AE%C2%BAb-pathways
#14
Eun-Jeong Kim, Minhee Jang, Min Jung Lee, Jong Hee Choi, Sung Joong Lee, Sun Kwang Kim, Dae Sik Jang, Ik-Hyun Cho
The beneficial value of the stems of Schisandra chinensis (SSC) in neurological diseases is unclear. We examined whether SSC aqueous extract (SSCE) alleviates striatal toxicity in a 3-nitropropionic acid (3-NPA)-induced mouse model of Huntington's disease (HD). SSCE (75, 150, or 300 mg/kg/day, p.o.) was given daily before or after 3-NPA treatment. Pre- and onset-treatment with SSCE displayed a significant protective effect and pretreatment was more effective as assessed by neurological scores and survival rate...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29027580/screening-for-amyloid-proteins-in-the-yeast-proteome
#15
Tatyana A Ryzhova, Julia V Sopova, Sergey P Zadorsky, Vera A Siniukova, Aleksandra V Sergeeva, Svetlana A Galkina, Anton A Nizhnikov, Aleksandr A Shenfeld, Kirill V Volkov, Alexey P Galkin
The search for novel pathological and functional amyloids represents one of the most important tasks of contemporary biomedicine. Formation of pathological amyloid fibrils in the aging brain causes incurable neurodegenerative disorders such as Alzheimer's, Parkinson's Huntington's diseases. At the same time, a set of amyloids regulates vital processes in archaea, prokaryotes and eukaryotes. Our knowledge of the prevalence and biological significance of amyloids is limited due to the lack of universal methods for their identification...
October 11, 2017: Current Genetics
https://www.readbyqxmd.com/read/29024655/lost-in-transportation-nucleocytoplasmic-transport-defects-in-als-and-other-neurodegenerative-diseases
#16
REVIEW
Hong Joo Kim, J Paul Taylor
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease characterized by degeneration of upper and lower motor neurons in the brain and spinal cord. The hallmark pathological feature in most cases of ALS is nuclear depletion and cytoplasmic accumulation of the protein TDP-43 in degenerating neurons. Consistent with this pattern of intracellular protein redistribution, impaired nucleocytoplasmic trafficking has emerged as a mechanism contributing to ALS pathology. Dysfunction in nucleocytoplasmic transport is also an emerging theme in physiological aging and other related neurodegenerative diseases, such as Huntington's and Alzheimer's diseases...
October 11, 2017: Neuron
https://www.readbyqxmd.com/read/29023437/22-years-of-predictive-testing-for-huntington-s-disease-the-experience-of-the-uk-huntington-s-prediction-consortium
#17
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd
This corrects the article DOI: 10.1038/ejhg.2016.36.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29021780/chronic-5-aminoimidazole-4-carboxamide-1-%C3%AE-d-ribofuranoside-treatment-induces-phenotypic-changes-in-skeletal-muscle-but-does-not-improve-disease-outcomes-in-the-r6-2-mouse-model-of-huntington-s-disease
#18
Marie-France Paré, Bernard J Jasmin
Huntington's disease (HD) is an autosomal dominant neurodegenerative genetic disorder characterized by motor, cognitive, and psychiatric symptoms. It is well established that regular physical activity supports brain health, benefiting cognitive function, mental health as well as brain structure and plasticity. Exercise mimetics (EMs) are a group of drugs and small molecules that target signaling pathways in skeletal muscle known to be activated by endurance exercise. The EM 5-aminoimidazole-4-carboxamide-1-β-d-ribofuranoside (AICAR) has been shown to induce cognitive benefits in healthy mice...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29020921/identify-huntington-s-disease-associated-genes-based-on-restricted-boltzmann-machine-with-rna-seq-data
#19
Xue Jiang, Han Zhang, Feng Duan, Xiongwen Quan
BACKGROUND: Predicting disease-associated genes is helpful for understanding the molecular mechanisms during the disease progression. Since the pathological mechanisms of neurodegenerative diseases are very complex, traditional statistic-based methods are not suitable for identifying key genes related to the disease development. Recent studies have shown that the computational models with deep structure can learn automatically the features of biological data, which is useful for exploring the characteristics of gene expression during the disease progression...
October 11, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29019918/protein-misfolding-and-aggregation-as-a-therapeutic-target-for-polyglutamine-diseases
#20
REVIEW
Toshihide Takeuchi, Yoshitaka Nagai
The polyglutamine (polyQ) diseases, such as Huntington's disease and several types of spinocerebellar ataxias, are a group of inherited neurodegenerative diseases that are caused by an abnormal expansion of the polyQ tract in disease-causative proteins. Proteins with an abnormally expanded polyQ stretch undergo a conformational transition to β-sheet rich structure, which assemble into insoluble aggregates with β-sheet rich amyloid fibrillar structures and accumulate as inclusion bodies in neurons, eventually leading to neurodegeneration...
October 11, 2017: Brain Sciences
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"