Search Results - "Shelbourne, P"

Dramatic mutation instability in HD mouse striatum : does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? by KENNEDY, Laura, SHELBOURNE, Peggy F

“…An unstable CAG triplet repeat expansion encoding a polyglutamine stretch within the ubiquitously expressed protein huntingtin is responsible for causing…”
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Impaired Synaptic Plasticity in Mice Carrying the Huntington's Disease Mutation by Usdin, Martine T., Shelbourne, Peggy F., Myers, Richard M., Madison, Daniel V.

“…Cognitive impairment is an early symptom of Huntington's disease (HD). Mice engineered to carry the HD mutation in the endogenous huntingtin gene showed a…”
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Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity by Li, Xiao-Jiang, Li, He, Li, Shi-Hua, Johnston, Heather, Shelbourne, Peggy F

“…Huntington disease (HD) is caused by expansion of a glutamine repeat in the amino-terminal region of huntingtin. Despite its widespread expression, mutant…”
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A Huntington's Disease CAG Expansion at the Murine Hdh Locus Is Unstable and Associated with Behavioural Abnormalities in Mice by Shelbourne, Peggy F., Killeen, Nigel, Hevner, Robert F., Johnston, Heather M., Tecott, Laurence, Lewandoski, Mark, Ennis, Margaret, Ramirez, Lucia, Li, Zhen, Iannicola, Carlo, Littman, Dan R., Myers, Richard M.

“…Huntington's disease (HD) is a dominant disorder characterized by premature and progressive neurodegeneration. In order to generate an accurate model of the…”
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Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis by Kennedy, Laura, Evans, Elizabeth, Chen, Chiung-Mei, Craven, Lyndsey, Detloff, Peter J., Ennis, Margaret, Shelbourne, Peggy F.

“…Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Although the mutant protein…”
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Myotonic dystrophy : size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism by LAVEDAN, C, HOFMANN-RADVANYI, H, SHELBOURNE, P, RABES, J.-P, DUROS, C, SAVOY, D, DEHAUPAS, I, LUCE, S, JOHNSON, K, JUNIEN, C

“…Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated…”
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Of mice and men: solving the molecular mysteries of Huntington's disease by SHELBOURNE, P. F.

“…Recent advances in the manipulation of mouse embryos provide opportunities for the disciplines of neuroscience and molecular genetics to join forces and tackle…”
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Alterations in dopamine and benzodiazepine receptor binding precede overt neuronal pathology in mice modelling early Huntington disease pathogenesis by Kennedy, Laura, Shelbourne, Peggy F., Dewar, Deborah

“…Huntington disease (HD) is an inherited, late onset, progressive neurodegenerative disorder. Primary degeneration appears to selectively occur in striatal…”
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Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype by Shelbourne, P, Winqvist, R, Kunert, E, Davies, J, Leisti, J, Thiele, H, Bachmann, H, Buxton, J, Williamson, B, Johnson, K

“…Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat in a sequence encoding a cAMP-dependent protein…”
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A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus by Johnson, K, Shelbourne, P, Davies, J, Buxton, J, Nimmo, E, Siciliano, M J, Bachinski, L L, Anvret, M, Harley, H, Rundle, S

“…The region of human chromosome 19 which includes the myotonic dystrophy locus (DM) has recently been redefined by the tight linkage between it and the gene for…”
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Huntingtin Aggregate-Associated Axonal Degeneration is an Early Pathological Event in Huntington's Disease Mice by Li, He, Li, Shi-Hua, Yu, Zhao-Xue, Shelbourne, Peggy, Li, Xiao-Jiang

“…Huntington's disease (HD) is characterized by the selective loss of striatal projection neurons. In early stages of HD, neurodegeneration preferentially occurs…”
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Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling by Meiner, A, Wolf, C, Carey, N, Okitsu, A, Johnson, K, Shelbourne, P, Kunath, B, Sauermann, W, Thiele, H, Kupferling, P

“…Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic…”
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French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion by Lavedan, C, Hofmann-Radvanyi, H, Boileau, C, Bonaïti-Pellié, C, Savoy, D, Shelbourne, P, Duros, C, Rabes, J P, Dehaupas, I, Luce, S

“…The molecular basis of myotonic dystrophy (DM) has been characterised. All DM mutations characterised to date appear as an unstable elongation of a fragment…”
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Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers by Lavedan, C, Hofmann, H, Shelbourne, P, Duros, C, Savoy, D, Johnson, K, Junien, C

“…We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal…”
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WHAT PRICE AM I BID?: Some Guidelines to Takeovers by Shelbourne, P

“…THE last few years have seen an unprecedented boom in the takeover business in the United Kingdom. In the middle of such a boom, as we are at the present, it…”
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The DM mutation; diagnostic applications in the Finnish population by Nokelainen, P, Shelbourne, P, Shaw, D, Brook, J D, Harley, H G, Johnson, K, Somer, H, Savontaus, M L, Peltonen, L

“…A pair of marker loci, D19S63 and D19S51, which are tightly linked to the myotonic dystrophy (DM) locus, were used to evaluate diagnostic applicability in the…”
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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member by Brook, J D, McCurrach, M E, Harley, H G, Buckler, A J, Church, D, Aburatani, H, Hunter, K, Stanton, V P, Thirion, J P, Hudson, T

“…Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients. This sequence is highly…”
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Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy by Buxton, Jessica, Shelbourne, Peggy, Davies, June, Jones, Clare, Tongeren, Tracey Van, Aslanidis, Charalampos, de Jong, Pieter, Jansen, Gert, Anvret, Maria, Riley, Brien, Williamson, Robert, Johnson, Keith

“…Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals. The disease is characterized by…”
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Normal electrical properties of hippocampal neurons modelling early Huntington disease pathogenesis by Shelbourne, Peggy, Coote, Edward, Dadak, Selma, Cobb, Stuart R

“…Abstract Huntington disease (HD) is a neurodegenerative disorder caused by an unstable and progressive expansion of a CAG trinucleotide repeat tract in the HD…”
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Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease by Veitch, Nicola J, Ennis, Margaret, McAbney, John P, Shelbourne, Peggy F, Monckton, Darren G

“…Huntington disease (HD) is associated with an unstable trinucleotide CAG.CTG repeat expansion. Although the repeat length is inversely correlated with the…”
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