Search Results - "Detloff, Peter J."

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease by Sathasivam, Kirupa, Neueder, Andreas, Gipson, Theresa A., Landles, Christian, Benjamin, Agnesska C., Bondulich, Marie K., Smith, Donna L., Faull, Richard L. M., Roos, Raymund A. C., Howland, David, Detloff, Peter J., Housman, David E., Bates, Gillian P.

“…Huntington disease (HD) is a devastating, late-onset, inherited neurodegenerative disorder that manifests with personality changes, movement disorders, and…”
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Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease by Jin, Jing, Peng, Qi, Hou, Zhipeng, Jiang, Mali, Wang, Xin, Langseth, Abraham J, Tao, Michael, Barker, Peter B, Mori, Susumu, Bergles, Dwight E, Ross, Christopher A, Detloff, Peter J, Zhang, Jiangyang, Duan, Wenzhen

“…White matter abnormalities have been reported in premanifest Huntington's disease (HD) subjects before overt striatal neuronal loss, but whether the white…”
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Rodent genetic models of Huntington disease by Heng, Mary Y, Detloff, Peter J, Albin, Roger L

“…Abstract Huntington disease (HD) is a dominantly inherited human neurodegenerative disorder characterized by motor deficits, cognitive impairment, and…”
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Intraflagellar transport is essential for endochondral bone formation by Haycraft, Courtney J, Zhang, Qihong, Song, Buer, Jackson, Walker S, Detloff, Peter J, Serra, Rosa, Yoder, Bradley K

“…While cilia are present on most cells in the mammalian body, their functional importance has only recently been discovered. Cilia formation requires…”
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DNA instability in postmitotic neurons by Gonitel, Roman, Moffitt, Hilary, Sathasivam, Kirupa, Woodman, Ben, Detloff, Peter J, Faull, Richard L.M, Bates, Gillian P

“…Huntington's disease (HD) is caused by a CAG repeat expansion that is unstable upon germ-line transmission and exhibits mosaicism in somatic tissues. We show…”
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Early autophagic response in a novel knock-in model of Huntington disease by Heng, Mary Y., Duong, Duy K., Albin, Roger L., Tallaksen-Greene, Sara J., Hunter, Jesse M., Lesort, Mathieu J., Osmand, Alex, Paulson, Henry L., Detloff, Peter J.

“…The aggregation of mutant polyglutamine (polyQ) proteins has sparked interest in the role of protein quality-control pathways in Huntington's disease (HD) and…”
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Early alterations of autophagy in Huntington disease-like mice by Heng, Mary Y., Detloff, Peter J., Paulson, Henry L., Albin, Roger L.

“…In a recent study, we reported in vivo evidence of early and sustained alterations of autophagy markers in a novel knock-in mouse model of Huntington disease…”
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Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse by Ordway, Jared M, Tallaksen-Greene, Sara, Gutekunst, Claire-Anne, Bernstein, Eve M, Cearley, Jamie A, Wiener, Howard W, Dure, Leon S, Lindsey, Russell, Hersch, Steven M, Jope, Richard S, Albin, Roger.L, Detloff, Peter J

“…The mutations responsible for several human neurodegenerative disorders are expansions of translated CAG repeats beyond a normal size range. To address the…”
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Progression of behavioural despair in R6/2 and Hdh knock-in mouse models recapitulates depression in Huntington's disease by Ciamei, Alessandro, Detloff, Peter J., Morton, A. Jennifer

“…•We studied forced swim test behaviours in R6/2 and Hdh knock-in mice.•In both lines, increased despair (floating) was shown at an early stage of disease…”
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Sex-dependent behavioral impairments in the HdhQ350/+ mouse line by Cao, Jessica K., Detloff, Peter J., Gardner, Richard G., Stella, Nephi

“…•The first characterization of the HdhQ350/+ mouse line.•HdhQ350/+ mice exhibit sex-dependent behavioral motor impairments.•HdhQ350/+ mice express mutant…”
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Longitudinal Evaluation of the Hdh(CAG)150 Knock-In Murine Model of Huntington's Disease by Heng, Mary Y, Tallaksen-Greene, Sara J, Detloff, Peter J, Albin, Roger L

“…Several murine genetic models of Huntington's disease (HD) have been developed. Murine genetic models are crucial for identifying mechanisms of…”
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Cell-Specific Deletion of PGC-1α from Medium Spiny Neurons Causes Transcriptional Alterations and Age-Related Motor Impairment by McMeekin, Laura J, Li, Ye, Fox, Stephanie N, Rowe, Glenn C, Crossman, David K, Day, Jeremy J, Li, Yuqing, Detloff, Peter J, Cowell, Rita M

“…Multiple lines of evidence indicate that a reduction in the expression and function of the transcriptional coactivator peroxisome proliferator-activated…”
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Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release by Choo, Yeun Su, Johnson, Gail V.W., MacDonald, Marcy, Detloff, Peter J., Lesort, Mathieu

“…Huntington's disease (HD) is initiated by an abnormally expanded polyglutamine stretch in the huntingtin protein, conferring a novel property on the protein…”
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Characterisation of progressive motor deficits in whisker movements in R6/2, Q175 and Hdh knock-in mouse models of Huntington’s disease by Garland, Huw, Wood, Nigel I., Skillings, Elizabeth A., Detloff, Peter J., Morton, A. Jennifer, Grant, Robyn A.

“…•We measured whisker control, as a more naturalistic way to assess motor function in HD mice.•All mice strains (R6/2 (CAG250), zQ175, Hdh (CAG250)) showed…”
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In Vivo Evidence for NMDA Receptor-Mediated Excitotoxicity in a Murine Genetic Model of Huntington Disease by Heng, Mary Y, Detloff, Peter J, Wang, Phillip L, Tsien, Joe Z, Albin, Roger L

“…N-methyl-D-aspartate receptor (NMDAR)-mediated excitotoxicity is implicated as a proximate cause of neurodegeneration in Huntington Disease (HD). This…”
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Allelic series of Huntington's disease knock-in mice reveals expression discorrelates by Kumar, Ashish, Zhang, Jennifer, Tallaksen-Greene, Sara, Crowley, Michael R, Crossman, David K, Morton, A Jennifer, Van Groen, Thomas, Kadish, Inga, Albin, Roger L, Lesort, Mathieu, Detloff, Peter J

“…Identifying molecular drivers of pathology provides potential therapeutic targets. Differentiating between drivers and coincidental molecular alterations…”
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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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Tissue transglutaminase overexpression does not modify the disease phenotype of the R6/2 mouse model of Huntington's disease by Kumar, Ashish, Kneynsberg, Andrew, Tucholski, Janusz, Perry, Giselle, van Groen, Thomas, Detloff, Peter J., Lesort, Mathieu

“…Huntington's disease (HD) is a devastating autosomal-dominant neurodegenerative disorder initiated by an abnormally expanded polyglutamine in the huntingtin…”
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Mitochondrial calcium uptake capacity as a therapeutic target in the R6/2 mouse model of Huntington's disease by Perry, Giselle M., Tallaksen-Greene, Sara, Kumar, Ashish, Heng, Mary Y., Kneynsberg, Andrew, van Groen, Thomas, Detloff, Peter J., Albin, Roger L., Lesort, Mathieu

“…Huntington's disease (HD) is an incurable autosomal-dominant neurodegenerative disorder initiated by an abnormally expanded polyglutamine domain in the…”
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Neurological abnormalities in a knock-in mouse model of Huntington's disease by LIN, Chin-Hsing, TALLAKSEN-GREENE, Sara, CHIEN, Wei-Ming, CEARLEY, Jamie A, JACKSON, Walker S, CROUSE, Andrew B, REN, Songrong, LI, Xiao-Jiang, ALBIN, Roger L, DETLOFF, Peter J

“…Mice representing precise genetic replicas of Huntington's disease (HD) were made using gene targeting to replace the short CAG repeat of the mouse…”
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