Selected Publications

Academic Article

Year Title Altmetric
2020 A Role for PGC-1α in Transcription and Excitability of Neocortical and Hippocampal Excitatory NeuronsNeuroscience.  435:73-94. 2020
2018 Characterisation of progressive motor deficits in whisker movements in R6/2, Q175 and Hdh knock-in mouse models of Huntington's diseaseJournal of Neuroscience Methods.  300:103-111. 2018
2018 Cell-specific deletion of PGC-1α from medium spiny neurons causes transcriptional alterations and age-related motor impairment 2018
2018 Sex-dependent behavioral impairments in the HdhQ350/+ mouse lineBehavioural Brain Research.  337:34-45. 2018
2016 Allelic series of Huntington's disease knock-in mice reveals expression discorrelatesHuman Molecular Genetics.  25:1619-1636. 2016
2015 Progression of behavioural despair in R6/2 and Hdh knock-in mouse models recapitulates depression in Huntington's diseaseBehavioural Brain Research.  291:140-146. 2015
2015 Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's diseaseHuman Molecular Genetics.  24:2508-2527. 2015
2013 Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease 2013
2013 Purkinje cell dysfunction and loss in a knock-in mouse model of Huntington DiseaseExperimental Neurology.  240:96-102. 2013
2012 Tissue transglutaminase overexpression does not modify the disease phenotype of the R6/2 mouse model of Huntington's diseaseExperimental Neurology.  237:78-89. 2012
2010 Early alterations of autophagy in Huntington disease-like miceAutophagy.  6:1206-1208. 2010
2010 Early autophagic response in a novel knock-in model of Huntington diseaseHuman Molecular Genetics.  19:3702-3720. 2010
2010 Mitochondrial calcium uptake capacity as a therapeutic target in the R6/2 mouse model of Huntington's diseaseHuman Molecular Genetics.  19:3354-3371. 2010
2009 In vivo evidence for NMDA receptor-mediated excitotoxicity in a murine genetic model of huntington disease 2009
2008 Rodent genetic models of Huntington diseaseNeurobiology of Disease.  32:1-9. 2008
2008 DNA instability in postmitotic neurons 2008
2007 Longitudinal evaluation of the Hdh(CAG)150 knock-in murine model of Huntington's disease 2007
2007 Intraflagellar transport is essential for endochondral bone formation 2007
2006 Lysosomal proteases are involved in generation of N-terminal huntingtin fragmentsNeurobiology of Disease.  22:346-356. 2006
2005 Verification of somatic CAG repeat expansion by pre-PCR fractionationJournal of Neuroscience Methods.  144:11-17. 2005
2005 Neuronal intranuclear inclusions and neuropil aggregates in Hdh CAG(150) knockin miceNeuroscience.  131:843-852. 2005
2004 Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c releaseHuman Molecular Genetics.  13:1407-1420. 2004
2004 Embryonic stem cells expressing expanded CAG repeats undergo aberrant neuronal differentiation and have persistent Oct-4 and REST/NRSF expressionMolecular and Cellular Neuroscience.  26:135-143. 2004
2004 Allele-specific conditional destabilization of glutamine repeat mRNAsGene Expression: International Journal of Molecular and Cellular Science.  12:213-222. 2004
2003 Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesisHuman Molecular Genetics.  12:3359-3367. 2003
2003 Hprt(CAG)146 mice: Age of onset of behavioral abnormalities, time course of neuronal intranuclear inclusion accumulation, neurotransmitter marker alterations, mitochondrial function markers, and susceptibility to 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridineJournal of Comparative Neurology.  465:205-219. 2003
2003 Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein contextHuman Molecular Genetics.  12:1621-1629. 2003
2003 Mouse Huntington's disease homolog mRNA levels: Variation and allele effectsGene Expression: International Journal of Molecular and Cellular Science.  11:221-231. 2003
2001 Efficient repetitive alteration of the mouse Huntington's disease gene by management of background in the tag and exchange gene targeting strategyTransgenic Research.  10:479-488. 2001
2001 Neurological abnormalities in a knock-in mouse model of Huntington's diseaseHuman Molecular Genetics.  10:137-144. 2001
2000 Analysis of the 5' end of the mouse Elavl1 (mHuA) gene reveals a transcriptional regulatory element and evidence for conserved genomic organizationGene.  242:125-131. 2000
1999 CAG-polyglutamine-repeat mutations: Independence from gene context 1999
1997 Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouseCell.  91:753-763. 1997
1996 Gene modification via 'plug and socket' gene targetingJournal of Clinical Investigation.  98. 1996
1996 In vitro synthesis and cloning of long CAG repeats 1996
1995 A mouse model for β0-thalassemia 1995
1994 Deletion and replacement of the mouse adult β-globin genes by a "plug and socket" repeated targeting strategyMolecular and Cellular Biology.  14:6936-6943. 1994
1992 A promoter deletion reduces the rate of mitotic, but not meiotic, recombination at the HIS4 locus in yeast 1992
1992 Analysis of a gene conversion gradient at the HIS4 locus in Saccharomyces cerevisiae 1992
1992 Measurements of excision repair tracts formed during meiotic recombination in Saccharomyces cerevisiaeMolecular and Cellular Biology.  12:1805-1814. 1992
1991 DNA-binding protein RAP1 stimulates meiotic recombination at the HIS4 locus in yeast 1991
1991 Repair of specific base pair mismatches formed during meiotic recombination in the yeast Saccharomyces cerevisiaeMolecular and Cellular Biology.  11:737-745. 1991

Education And Training

  • Doctor of Philosophy in Molecular Genetics, University of Chicago 1991
  • Full Name

  • Peter Detloff