huntington s disease hd omim 143100

... transcription start site and several other transcription start sites in the mouse CB1 gene that were used to express the CB1 gene in striatal and cortical neurons We consistently saw the same ... messenger RNA levels decrease in a subset of neurons in the lateral striatum, cortex and hippocampus of transgenic Huntington s disease mice Neuroscience 98, 705–713 10 Mangiarini, L., Sathasivam, ... progression and severity of symptoms in HD patients and HD transgenic mice [3,10] The R6/1 mice have a later age of motor symptom onset and cognitive decline and slower disease progression than...

Ngày tải lên: 16/03/2014, 18:20

... universality of the amyloid hypothesis in those diseases as well In Alzheimer s disease, genetic mutations in familial Alzheimer s disease reveal that Alzheimer s disease in those cases may be caused ... transmitted spongiform encephalopathies, Parkinson s Revisiting the aggregation hypothesis disease, and Alzheimer s disease [15] Polyglutamine diseases have often been historically considered as ... Huntington s Disease Initiative (CHDI) USA, the Huntington s disease Society of America (HDSA), the Huntington s Society of Canada and the Canadian Institutes of Health Research (CIHR), Genetics and...

Ngày tải lên: 23/03/2014, 07:20

... disease- causing proteins associated with various neurodegenerative disorders, such as mutant huntingtin [causing Huntington s disease (HD) ], ataxin-3 (causing spinocerebellar ataxia 3), forms ... excessive endosomal–lysosomal-like organelles, tubulovesicular structures, and multiple vesicular bodies [36,37] Increased autophagosome–lysosomal bodies have also been found in primary striatal ... than using doses of either inhibitor that result in more severe perturbations of a single pathway This alternative strategy may help to lessen the drug-specific side-effects GSK-3b is also known...

Ngày tải lên: 23/03/2014, 07:20

... caspase-8 and caspase-10, and increase their expressions In turn, increased pro-caspase-8 is recruited to HIPPI–HIP-1 heterodimer and increases apoptosis The role of caspase-1 in apoptosis is ... Andrews LJ, Khan SQ, Chung WM, Frey AS, Menon AS, Li XJ, Stieg PE et al (1999) Inhibition of caspase1 slows disease progression in a mouse model of Huntington s disease Nature 399, 263–267 48 Vis ... transcription of caspase-1, and this warrants further studies A summary of the findings that HIPPI increases apoptosis and alters gene expression is shown in Fig Hi Pro-caspase-1 45 kDa Caspase-1 20 kDa...

Ngày tải lên: 23/03/2014, 07:20

... with increased energy metabolism at the tissue level leading to modified levels of various intermediary metabolites with pathological consequences Huntington s disease (HD) is a progressive neurodegenerative ... basis of the changes in Vmax We examined the possibility that not only the expression levels of the same isoenzymes was altered in HD, but also different isoenzymes had been brought to expression, ... disorders, is representative of a number of inherited diseases The initiation of the disease process depends on the size of polyglutamine tails [32] The cognitive and psychiatric decline is caused...

Ngày tải lên: 23/03/2014, 10:20

... (1995) Comparison of cathepsin protease activities in brain tissue from normal cases and cases with Alzheimer 's disease, Lewy body dementia, Parkinson 's disease and Huntington' s disease Journal ... has also been shown that the binding of Sp1 to specific promoters of susceptible genes is significantly decreased in transgenic HD mouse brains, striatal HD cells and human HD brains This suggests ... patient usually dies within 10 to 20 years after the first symptoms appear, as there is currently no treatment to prevent or delay disease progression As the disease progresses, there is general...

Ngày tải lên: 30/03/2014, 23:20

... ~8 weeks, ~10 weeks, ~12 weeks, and ~13 weeks Discussion Gait disturbances are characteristic of Parkinson 's disease, Huntington' s disease, and amyotrophic lateral sclerosis Gait reflects several ... used for image analyses The treadmill belt was wiped clean between studies if necessary Statistics Data are presented as means ± SE ANOVA was used to test for statistical differences among saline-treated, ... Background Disturbances in gait are symptomatic of Parkinson 's disease (PD) and Huntington' s disease (HD) Gait abnormalities in PD include shortened stride length [1,2], a dyscontrol of stride frequency...

Ngày tải lên: 19/06/2014, 10:20

... Huntington s Disease W.B Saunders London, 1996 Ross CA: Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington s disease and related disorders Neuron 2002, 35(5):819-822 Behrens PF, ... http://www.jbiomedsci.com/content/17/1/62 data suggest that the mechanism for increasing GLT1 expression is still functional even in late stage HD Acknowledgements This research was supported by NINDS (R01 NS35663; F31 NS064791) ... a two-way analysis of variance (ANOVA) and Bonferroni post hoc tests All statistical tests required a level of significance of at least P < 0.05 Results Body weights Table shows the mean body...

Ngày tải lên: 10/08/2014, 05:21

... interactions merits additional functional analysis, such as molecular genetic dissection in mouse models of HD One method would be to validate the candidates using models of polyQ disease in organisms such ... large size of Htt and its apparent role in several cellular processes has raised the possibility that Htt serves as a scaffold that arranges protein complexes by modulating the binding of accessory ... repeats associated with condensins, cohesins, and other complexes involved in chromosome-related functions Genome Res 2000, 10:1445-1452 Cha JH: Transcriptional dysregulation in Huntington s disease...

Ngày tải lên: 14/08/2014, 14:21

... Parkinson s Disease Parkinson s disease (also known as Parkinson disease or PD) is a degenerative disorder of the central nervous system that often impairs the sufferer s motor skills and speech ... functions, neurotransmitter levels, emotional stress, and progression of neurodegenerative conditions such as Parkinson s and Alzheimer s diseases (Rahman et al., 2008) 11.4 Heart Disease 11.4.1 Case ... with use of St John s wort as monotherapy include gastrointestinal symptoms such as constipation, dizziness or confusion, fatigue, dry mouth, restlessness, headache, allergic skin reactions, sexual...

Ngày tải lên: 25/10/2013, 05:20

... Gammaherpesvirinae (i) Aujeszky s disease (AJD), gọi bệnh giả dại (pseudorabies), bệnh porcine herpesvirus-1 [Aujeszky s disease virus (ADV), pseudorabies virus (PRV)] gây Virus thuộc Herpesviridae, ... its Eradication (e) Carlos H Romero, Paul N.Meade ctv- Journal of Wildlife Disease, 37 (2), 2001, pp 289-296: Venereal Transmission of Pseudorabies Viruses Indigenous to Feral Swine (f) Hans ... National Pseudorabies Surveillance Plan Final Draft (d) United States Department of Agriculter- Animal and Plant Health Inspection Service Technical Bulletin No 1923: Pseudorabies (Aujeszky s Disease) ...

Ngày tải lên: 21/01/2014, 13:47

... studies have demonstrated that mutant a-synuclein, which misfolds, oligomerizes and aggregates, is resistant to UPS-mediated degradation and PARKINSON S DISEASE AND PARKINSONISM PARKINSON S DISESASE ... which slows or stops disease progression ACKNOWLEDGEMENT This study was supported by grants from the NIH/NINDS (1 RO1 NS045999-01), the Bendheim Parkinson s Disease Center, and the Morris and ... Pathogenesis of cell death in Parkinson s disease 2007 Movement Disorders, 22, S3 35 S3 42 Olanow, C.W and McNaught, K (2006) The Ubiquitin-Proteasome System in Parkinson s Disease Movement Disorders,...

Ngày tải lên: 14/02/2014, 17:20

... congress site and was often seen discussing topics of mutual interest with congress participant s There was an interesting new study presented by Professor Deuschl, Kiel, in which he demonstrates ... Sleep disturbances and excessive daytime sleepiness in Parkinson disease: an overview Arnulf, I.: Sleep and wakefulness disturbances in Parkinson s disease ... 85% had classic Parkinson s Disease and 13% had post-encephalitic associated Parkinsonism This was the largest clinical sample hitherto studied Two hundred and sixty three subjects attending...

Ngày tải lên: 14/02/2014, 17:20

... hereditary diseases like Wilson s disease Huntington s disease is an involuntary movement disorder that is often associated with dementia Parkinson s disease is a progressive brain disorder and ... feelings, vision problems, etc Degenerative diseases like Huntington s disease or other rare, usually genetically transmitted diseases may also cause dementia in adolescents This illness destroys ... cardiovascular disease, also called ischemic heart disease, the blood vessels that supply the heart muscle with oxygen and nutrients narrow These diseases can cause strokes and heart disease (heart...

Ngày tải lên: 14/02/2014, 18:20

... network, as well as statistically significant functional association with GO classifications [16] Western blotting Expression of a-synuclein and HSP70 was determined by western blotting Proteins (80 ... Biophys Acta 1787, 335–344 Chan CS, Gertler TS & Surmeier DJ (2009) Calcium homeostasis, selective vulnerability and Parkinson s disease Trends Neurosci 32, 249–256 Van Laar VS, Mishizen AJ, Cascio ... iodide positive b-gal and a-syn cells in response to dopamine treatment Table S1 MS ⁄ MS peptide sequence analysis of successfully identified proteins Table S2 Enriched GO categories starting...

Ngày tải lên: 15/02/2014, 01:20

... microtubule-associated protein that normally serves to assemble and stabilize microtubules Genetics and risk factors implicated in Alzheimer s disease pathogenesis Familial forms of AD, with an autosomal ... Authors Journal compilation ª 2010 FEBS 1391 Animal models of Alzheimer s disease O Philipson et al Transgenic animal models Models devoid of any disease- causing APP mutations Animal models expressing ... experiments is strengthened if expression and deletion of the gene (s) results in the opposite outcome, or if the results are substantiated by in vitro studies or analyses of clinical samples The...

Ngày tải lên: 16/02/2014, 09:20

... neurons (Fig 7C), with a similar loss evident for all peptides Discussion Because extensive evidence supports a crucial role for Ab in Alzheimer s disease pathogenesis, there is huge interest in ... transmission microscope operated at 120 V All reagents were supplied by Electron Microscopy Sciences (Hatfield, PA, USA) Assessement of SEC-isolated peptides by HPLC and SDS-PAGE Samples (100 ... urea Mass spectrometry, amino acid analysis and sequencing Amino acid analysis was performed at the Amino Acid Analysis Center, University of Uppsala, Sweden Sequence analysis was performed using...

Ngày tải lên: 18/02/2014, 13:20

... oxidative stress [77] and Drosophila Parkin mutants show increased sensitivity to oxidative stress [78] Implication of PINK1 in oxidative stress processes has also been strongly suggested: inactivation ... Autosomal recessive genes in Parkinson s disease Protein phosphorylation and signalling pathways PINK1 has a strongly predicted, conserved serine ⁄ threonine kinase domain [12] and has been shown ... patients with mutations in PARK2 suffer a slow progression of the disease commonly associated with early-onset dystonia and are l-Dopa responsive [3] Pathological studies on AR-JP patients with...

Ngày tải lên: 18/02/2014, 14:20

... glycosyltransferase; CK, ceramide kinase; CS, ceramide synthase; DES, desaturase; GALC, galactosylceramidase; GBA, glucosylceramidase; GCS, glucosylceramide synthase; SMS, sphingomyelin synthase; ... neurodegenerative diseases with inclusion pathology For Alzheimer s disease, when pathology was used as a basis to understand the disease, pathways involved became evident This would be most unlikely ... homozygous, lead to Gaucher s disease but when heterozygous, predispose to PD [10] GBA catalyzes the breakdown of glucosecerebroside to ceramide and glucose Gaucher s disease is caused by a lysosomal...

Ngày tải lên: 18/02/2014, 14:20

... parkinsonism, but not every person with parkinsonism has Parkinson s disease Parkinsonism has many possible causes, and Parkinson s disease is only one of the possibilities For example, parkinsonism ... What Is Parkinson s Disease? • What are the symptoms of Parkinson s disease? • What causes these symptoms? • What is the difference between Parkinson s disease and parkinsonism? • When should ... Symptoms 43 Moderate Parkinson s Disease 59 Advanced Parkinson s Disease 82 Behavioral Changes and Psychiatric Symptoms 104 Young-Onset Parkinson s Disease 121 PART III Diagnosing Parkinson s Disease...

Ngày tải lên: 19/02/2014, 04:20