Research Topics
Genomes and Genes
| Christopher A RossSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Detail Information
Publications
Huntington's disease: from molecular pathogenesis to clinical treatmentChristopher A Ross
Departments of Psychiatry, Neurology, Pharmacology, and Neuroscience, and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Lancet Neurol 10:83-98. 2011..Thus, Huntington's disease is also emerging as a model for strategies to develop therapeutic interventions, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset...
ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell lineYideng Liang
Division of Neurobiology, Department of Psychiatry, The Johns Hopkins University School of Medicine, CMSC 8 121, 600 N Wolfe St, Baltimore, MD 21287, USA
Brain Res 1286:221-9. 2009..These results indicated that ATF3 plays a critical role in toxicity induced by mutant Htt-N63 and may lead to a useful therapeutic target...- Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degenerationWanli W Smith
Department of Psychiatry, Division of Neurobiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Proc Natl Acad Sci U S A 102:18676-81. 2005.... 
Depletion of CBP is directly linked with cellular toxicity caused by mutant huntingtinHaibing Jiang
Division of Neurobiology, Department of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Neurobiol Dis 23:543-51. 2006..CBP overexpression rescued both acetylated histone levels and cell toxicity. These data suggest that CBP dysfunction and altered gene transcription contribute to mutant htt-induced neurotoxicity...- Sertraline slows disease progression and increases neurogenesis in N171-82Q mouse model of Huntington's diseaseWenzhen Duan
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, CMSC 8 121, 600 North Wolfe Street, Baltimore, MD 21287, USA
Neurobiol Dis 30:312-22. 2008..Additionally, the effective levels of sertraline are comparable to the safe levels achievable in humans. The findings suggest that sertraline is a potential candidate for treatment of HD patients... - Synphilin-1 attenuates neuronal degeneration in the A53T alpha-synuclein transgenic mouse modelWanli W Smith
Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Hum Mol Genet 19:2087-98. 2010..These studies demonstrate that synphilin-1 can diminish the severity of alpha-synucleinopathy and play a neuroprotective role against A53T alpha-synuclein toxicity in vivo... - Tiagabine is neuroprotective in the N171-82Q and R6/2 mouse models of Huntington's diseaseNaoki Masuda
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, CMSC 8 121, 600 N Wolfe Street, Baltimore, MD 21287, USA
Neurobiol Dis 30:293-302. 2008..These results suggest that tiagabine may have beneficial effects in the treatment of HD. Because tiagabine is an FDA-approved drug, it may be a promising candidate for future clinical trials for the treatment of HD... - Kinase activity of mutant LRRK2 mediates neuronal toxicityWanli W Smith
Department of Psychiatry, Division of Neurobiology, Johns Hopkins University School of Medicine, CMSC 8 121, 600 North Wolfe Street, Baltimore, Maryland 21287, USA
Nat Neurosci 9:1231-3. 2006..These data elucidate the pathogenesis of LRRK2-linked Parkinson disease, potentially illuminate mechanisms of sporadic Parkinson disease and suggest therapeutic targets... - Structural MRI detects progressive regional brain atrophy and neuroprotective effects in N171-82Q Huntington's disease mouse modelYong Cheng
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Neuroimage 56:1027-34. 2011..Our present studies provide the first evidence that longitudinal structural MRI measures can detect the therapeutic effect in HD mice, suggesting that such measures in brain could be valuable biomarkers in HD clinical trials... - A mutant ataxin-3 fragment results from processing at a site N-terminal to amino acid 190 in brain of Machado-Joseph disease-like transgenic miceVeronica F Colomer Gould
Department of Psychiatry, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Meyer Research Building, Room 4 158, Baltimore, MD 21287, USA
Neurobiol Dis 27:362-9. 2007..Our results support the toxic fragment hypothesis and narrow the mutant ataxin-3 cleavage site to the N-terminus of amino acid 190... - Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cellsTamara Ratovitski
Division of Neurobiology, Department of Psychiatry, Mass Spectrometry and Proteomics Facility, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Biol Chem 284:10855-67. 2009..These data suggest that cleavage of huntingtin at residue Arg(167) may mediate mutant huntingtin toxicity in Huntington disease... - Alpha-synuclein phosphorylation enhances eosinophilic cytoplasmic inclusion formation in SH-SY5Y cellsWanli W Smith
Department of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
J Neurosci 25:5544-52. 2005..These results indicate that phosphorylation of alpha-synuclein at S129 may be important for the formation of inclusions in PD and related alpha synucleinopathies... - Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtinYuji Tanaka
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, CMSC 8 121, 600 North Wolfe Street, Baltimore, MD 21287, USA
Neurobiol Dis 21:381-91. 2006..The data suggest that proteolytic processing could be a part of the pathogenesis of HD, potentially representing an attractive therapeutic target... - Striatal neuronal loss correlates with clinical motor impairment in Huntington's diseaseZhihong Guo
Division of Neuropathology, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Mov Disord 27:1379-86. 2012..Our findings suggest that neuronal loss and atrophy in striatum and neuronal loss in subthalamic nuclei contribute specifically to the motor impairment of HD, but not to chorea... - Age, CAG repeat length, and clinical progression in Huntington's diseaseAdam Rosenblatt
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Mov Disord 27:272-6. 2012..This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment... - Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtinElaine Waldron-Roby
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Neurosci 32:183-93. 2012.... - Endoplasmic reticulum stress and mitochondrial cell death pathways mediate A53T mutant alpha-synuclein-induced toxicityWanli W Smith
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Hum Mol Genet 14:3801-11. 2005..This study sheds light into the pathogenesis of alpha-synuclein cellular toxicity in PD and provides a cell model for screening PD therapeutic agents... - Depressive symptoms in prodromal Huntington's Disease correlate with Stroop-interference related functional connectivity in the ventromedial prefrontal cortexPaul G Unschuld
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Psychiatry Res 203:166-74. 2012..These findings suggest that depressive symptoms in prodromal HD subjects may reflect altered functional brain network activity in the context of early HD-related brain alterations... - Huntingtin is cleaved by caspases in the cytoplasm and translocated to the nucleus via perinuclear sites in Huntington's disease patient lymphoblastsAkira Sawa
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Neurobiol Dis 20:267-74. 2005..Our findings suggest that caspase cleavage of Htt is cytoplasmic and precedes sorting to specific perinuclear sites followed by nuclear translocation in HD patient tissue... - Brain metabolite alterations and cognitive dysfunction in early Huntington's diseasePaul G Unschuld
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Mov Disord 27:895-902. 2012.... - Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysisTamara Ratovitski
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Cell Cycle 11:2006-21. 2012.... - Spatiotemporal mapping of brain atrophy in mouse models of Huntington's disease using longitudinal in vivo magnetic resonance imagingManisha Aggarwal
Division of NMR Research, Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Neuroimage 60:2086-95. 2012..The findings of this report can be used for future testing and comparison of potential therapeutics in mouse models of HD... - Parkinson's disease genetic mutations increase cell susceptibility to stress: mutant alpha-synuclein enhances H2O2- and Sin-1-induced cell deathHaibing Jiang
Department of Psychiatry, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Neurobiol Aging 28:1709-17. 2007..These results indicate that genetic mutations in alpha-synuclein may increase neuronal vulnerability to cellular stress in aging and PD pathogenesis... - CHIP regulates leucine-rich repeat kinase-2 ubiquitination, degradation, and toxicityHan Seok Ko
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 106:2897-902. 2009..Thus, increasing CHIP E3 ligase activity and blocking HSP90 chaperone activity can prevent the deleterious effects of LRRK2. These findings point to potential treatment options for LRRK2-associated PD... - The antidepressant sertraline improves the phenotype, promotes neurogenesis and increases BDNF levels in the R6/2 Huntington's disease mouse modelQi Peng
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Exp Neurol 210:154-63. 2008..Our findings suggest that a clinical trial of SSRI treatment in order to retard disease progression in human HD may be warranted... - Mutant huntingtin: nuclear translocation and cytotoxicity mediated by GAPDHByoung Il Bae
Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 103:3405-9. 2006..Depletion of GAPDH or Siah1 by RNA interference diminishes nuclear translocation of mHtt... - Compounds blocking mutant huntingtin toxicity identified using a Huntington's disease neuronal cell modelWenfei Wang
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2109, USA
Neurobiol Dis 20:500-8. 2005..We also tested a broad spectrum caspase inhibitor Z-VAD-fmk and previously proposed candidate compounds. This cell model can provide a method to screen potential therapeutic compounds for treating Huntington's disease... - Animal models of gene-environment interactions in schizophreniaYavuz Ayhan
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Behav Brain Res 204:274-81. 2009..We propose that animal models based on identified genetic mutations and measurable environment factors will help advance studies of the molecular mechanisms of gene-environment interplay... - Nuclear-targeting of mutant huntingtin fragments produces Huntington's disease-like phenotypes in transgenic miceGabriele Schilling
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Hum Mol Genet 13:1599-610. 2004..These data suggest that disruption of nuclear processes may account for many of the disease phenotypes displayed in the mouse models generated by expressing mutant N-terminal fragments of htt... - Identification of novel potentially toxic oligomers formed in vitro from mammalian-derived expanded huntingtin exon-1 proteinLeslie G Nucifora
Division of Neurobiology, Department of Psychiatry, Children s Medical Surgical Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Biol Chem 287:16017-28. 2012..In addition, these studies demonstrate the fundamental differences in early aggregation events between mutant huntingtin exon-1 and shortstop proteins that may underlie the differences in toxicity... - Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesisAna I Seixas
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Ann Neurol 71:245-57. 2012..The aim of this study was to test the possibility that loss of JPH3 expression or expanded amino acid tracts also contribute to HDL2 pathogenesis... - A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex developmentAtsushi Kamiya
Department of Psychiatry Neurobiology, Johns Hopkins University School of Medicine, 600 N Wolfe Street, CMSC 8 117, Baltimore, MD 21287, USA
Nat Cell Biol 7:1167-78. 2005..These results indicate that DISC1 is involved in cerebral cortex development, and suggest that loss of DISC1 function may underlie neurodevelopmental dysfunction in schizophrenia... - Neuropsychological deficits in Huntington's disease gene carriers and correlates of early "conversion"Jason Brandt
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
J Neuropsychiatry Clin Neurosci 20:466-72. 2008..People with the Huntington's disease mutation who are carefully examined neurologically and found to be asymptomatic have, at most, very minimal problem-solving impairment, and only if they are within a few years of clinical onset... - N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's diseaseTamara Ratovitski
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Cell Cycle 6:2970-81. 2007..Further delineation of huntingtin cleavage events may lead to novel therapeutic targets for HD... - A comparison of huntington disease and huntington disease-like 2 neuropathologyDobrila D Rudnicki
Division of Neurobiology, Department of Psychiatry, John Hopkins University School of Medicine, Baltimore, Maryland, USA
J Neuropathol Exp Neurol 67:366-74. 2008..Overall, the neuropathologic features of HDL2 and HD are very similar but not identical, suggesting that the pathogenetic mechanisms of the 2 diseases may partially overlap... - Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activityAndrew B West
Institute for Cell Engineering, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 102:16842-7. 2005..These results suggest a gain-of-function mechanism for LRRK2-linked disease with a central role for kinase activity in the development of PD... - Neuroprotective role of Sirt1 in mammalian models of Huntington's disease through activation of multiple Sirt1 targetsMali Jiang
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nat Med 18:153-8. 2012..These findings show a neuroprotective role for Sirt1 in mammalian Huntington's disease models and open new avenues for the development of neuroprotective strategies in Huntington's disease... - PC12 cell model of inducible expression of mutant DISC1: new evidence for a dominant-negative mechanism of abnormal neuronal differentiationMikhail V Pletnikov
Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Neurosci Res 58:234-44. 2007..Thus, inducible expression of DISC1 in PC12 cell clones is a valuable in vitro model for further studying the molecular mechanisms likely due to loss of function of DISC1 relevant to the pathogenesis of major mental illnesses... - Baicalein reduces E46K alpha-synuclein aggregation in vitro and protects cells against E46K alpha-synuclein toxicity in cell models of familiar ParkinsonismMali Jiang
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Neurochem 114:419-29. 2010..Baicalein has potential as a tool to understand the relation between different aggregation species and toxicity, and might be a candidate compound for further validation by using in vivo alpha-syn genetic PD models... - Primate disrupted-in-schizophrenia-1 (DISC1): high divergence of a gene for major mental illnesses in recent evolutionary historyLyuda Bord
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Neurosci Res 56:286-93. 2006.... - Regional white matter change in pre-symptomatic Huntington's disease: a diffusion tensor imaging studySarah A J Reading
Division of Psychiatric Neuroimaging, Department of Psychiatry, The Johns Hopkins University, Phipps 313, Baltimore, MD 21287, USA
Psychiatry Res 140:55-62. 2005..Our results indicate that, before the onset of manifest HD, there are regional decreases in fractional anisotropy, indicating early white matter disorganization... - Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtinTamara Ratovitski
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
J Biol Chem 286:12578-89. 2011..Our findings further validate the cysteine protease family, and BLMH and cathepsin Z in particular, as potential novel targets for HD therapeutics... - A form of DISC1 enriched in nucleus: altered subcellular distribution in orbitofrontal cortex in psychosis and substance/alcohol abuseNaoya Sawamura
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Proc Natl Acad Sci U S A 102:1187-92. 2005..These results suggest that DISC1 may be implicated in psychiatric conditions in other populations than the unique Scottish family... - Characterization of huntingtin pathologic fragments in human Huntington disease, transgenic mice, and cell modelsGabriele Schilling
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Neuropathol Exp Neurol 66:313-20. 2007.... - Acute kidney injury leads to inflammation and functional changes in the brainManchang Liu
Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA
J Am Soc Nephrol 19:1360-70. 2008..These data demonstrate that severe ischemic AKI induces inflammation and functional changes in the brain. Targeting these pathways could reduce morbidity and mortality in critically ill patients with severe AKI... - A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentrationDaniel Goti
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Neurosci 24:10266-79. 2004.... - Longitudinal characterization of brain atrophy of a Huntington's disease mouse model by automated morphological analyses of magnetic resonance imagesJiangyang Zhang
Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Neuroimage 49:2340-51. 2010..This is the first report of longitudinal characterization of brain atrophy in a mouse model of Huntington's disease by using automatic morphological analysis... - p53 mediates cellular dysfunction and behavioral abnormalities in Huntington's diseaseByoung Il Bae
Department of Neuroscience, Johns Hopkins University School of Medicine, 725 North Wolfe Street, Baltimore, MD 21205, USA
Neuron 47:29-41. 2005..Genetic deletion of p53 suppresses neurodegeneration in mHtt-Tg flies and neurobehavioral abnormalities of mHtt-Tg mice. Our findings suggest that p53 links nuclear and mitochondrial pathologies characteristic of HD... - Diffuse abnormality of low to moderately organized white matter in schizophreniaSarah A J Reading
Division of Neuroimaging, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Brain Connect 1:511-9. 2011.... - trans-(-)-ε-Viniferin increases mitochondrial sirtuin 3 (SIRT3), activates AMP-activated protein kinase (AMPK), and protects cells in models of Huntington DiseaseJinrong Fu
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Biol Chem 287:24460-72. 2012..Our results suggest that increasing mitochondrial SIRT3 might be considered as a new therapeutic approach to counteract HD, as well as other neurodegenerative diseases with similar mechanisms... - Functional brain changes in presymptomatic Huntington's diseaseSarah A J Reading
Department of Psychiatry, Johns Hopkins University, Baltimore, MD 21287, USA
Ann Neurol 55:879-83. 2004..In the setting of normal cognitive performance, presymptomatic HD subjects had significantly and specifically less activation in the left anterior cingulate cortex (BA 24, 32) compared with matched controls... - Huntington disease: pathogenesis, biomarkers, and approaches to experimental therapeuticsChristopher A Ross
Professor of Psychiatry, Neurology, Pharmacology and Neuroscience, Johns Hopkins University School of Medicine, CMSC 8 121, 600 North Wolfe Street, Baltimore, MD 21287, USA
Parkinsonism Relat Disord 15:S135-8. 2009.... - Autophagosome-like vacuole formation in Huntington's disease lymphoblastsEiichiro Nagata
Departments of Neuroscience, Johns Hopkins University School of Medicine, 725 North Wolfe Street, Baltimore, Maryland 21205, USA
Neuroreport 15:1325-8. 2004..Our findings provide direct evidence for abnormalities in Huntington's disease tissues outside the brain under basal conditions. Autophagic cellular alterations may be utilized as peripheral markers of Huntington's disease pathology... - Factors contributing to institutionalization in patients with Huntington's diseaseAdam Rosenblatt
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Mov Disord 26:1711-6. 2011..This may illustrate the especially debilitating nature of the movement disorder of Huntington's disease in comparison with the other dementias... - A Drosophila model for LRRK2-linked parkinsonismZhaohui Liu
Department of Psychiatry, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Proc Natl Acad Sci U S A 105:2693-8. 2008..These flies may provide a useful model for studying LRRK2-linked pathogenesis and for future therapeutic screens for PD intervention... - Huntington's Disease-like 2 (HDL2) in North America and JapanRussell L Margolis
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Ann Neurol 56:670-4. 2004..0098). The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype... - A structure-based analysis of huntingtin mutant polyglutamine aggregation and toxicity: evidence for a compact beta-sheet structureMichelle A Poirier
Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Hum Mol Genet 14:765-74. 2005..We found our data support this model in the htt protein and provide a better understanding of the structural basis of polyQ aggregation in toxicity in HD... - Gene-environment interactions in Parkinson's diseaseChristopher A Ross
Department of Psychiatry, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Parkinsonism Relat Disord 13:S309-15. 2007..None of the single models replicate all the features of PD. Genetic models (possibly including more than one mutation) in combination with toxins or other environmental manipulation may provide better models of PD pathogenesis... - Huntington's disease--like 2 is associated with CUG repeat-containing RNA fociDobrila D Rudnicki
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Ann Neurol 61:272-82. 2007..The goal of this study, therefore, was to test the plausibility of an RNA gain-of-function component in the pathogenesis of HDL2... - Impaired cortico-striatal functional connectivity in prodromal Huntington's DiseasePaul G Unschuld
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Neurosci Lett 514:204-9. 2012..Additional longitudinal studies are necessary to elucidate the temporal relationship between functional alterations and earliest structural brain changes in prodromal-HD... - Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicityFrederick C Nucifora
Division of Neurobiology, Department of Psychiatry, and The Program in Cellular and Molecular Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 2196, USA
J Biol Chem 278:13047-55. 2003..These data indicate that truncation of atrophin-1 may alter its ability to shuttle between the nucleus and cytoplasm, leading to abnormal nuclear interactions and cell toxicity... - Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formationKah Leong Lim
Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
J Neurosci 25:2002-9. 2005..Our results suggest that parkin is a dual-function ubiquitin ligase and that K63-linked ubiquitination of synphilin-1 by parkin may be involved in the formation of Lewy body inclusions associated with PD... - Protein aggregation and neurodegenerative diseaseChristopher A Ross
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Ross Research Building, Room 618, 720 Rutland Avenue, Baltimore, Maryland 21205, USA
Nat Med 10:S10-7. 2004..There is now increased understanding of the pathways involved in protein aggregation, and some recent clues have emerged as to the molecular mechanisms of cellular toxicity. These are leading to approaches toward rational therapeutics... - LRRK2 kinase activity mediates toxic interactions between genetic mutation and oxidative stress in a Drosophila model: suppression by curcuminDejun Yang
Department of Physiology and Pathophysiology, Xi an Jiaotong University School of Medicine, Xi an, Shaanxi, PR China
Neurobiol Dis 47:385-92. 2012..These studies also identified curcumin as a LRRK2 kinase inhibitor that may be a useful candidate for LRRK2-linked PD intervention... - Prenatal interaction of mutant DISC1 and immune activation produces adult psychopathologyBagrat Abazyan
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, USA
Biol Psychiatry 68:1172-81. 2010..We evaluated interaction between mutant human disrupted-in-schizophrenia 1 (mhDISC1) and maternal immune activation implicated in schizophrenia and mood disorders... - Environmental, pharmacological, and genetic modulation of the HD phenotype in transgenic miceGabriele Schilling
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205 2196, USA
Exp Neurol 187:137-49. 2004..The positive outcomes achieved by CoQ10 therapy and environmental stimuli point toward two potentially therapeutic approaches that should be readily accessible to HD patients and at-risk family members... - Neurobiology of schizophreniaChristopher A Ross
Division of Neurobiology, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
Neuron 52:139-53. 2006..Understanding these basic pathologic processes may yield novel targets for the development of more effective treatments... - Huntington's disease: new paths to pathogenesisChristopher A Ross
Department of Psychiatry, 618 Ross Research Building, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA
Cell 118:4-7. 2004..This suggests an intriguing convergence to previously described pathways implicating neurotrophin transcription in HD pathogenesis... - Polyglutamine fibrillogenesis: the pathway unfoldsChristopher A Ross
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Proc Natl Acad Sci U S A 100:1-3. 2003 - The ubiquitin-proteasome pathway in Parkinson's disease and other neurodegenerative diseasesChristopher A Ross
Johns Hopkins University School of Medicine, Division of Neurobiology, Department of Psychiatry, Ross Research Building, Room 618, 720 Rutland Avenue, Baltimore, MD 21205, USA
Trends Cell Biol 14:703-11. 2004..However, the exact molecular connections between these systems and pathogenesis remain uncertain and controversial. In this article, we summarize the state of current knowledge, focusing on important unresolved questions... - Opinion: What is the role of protein aggregation in neurodegeneration?Christopher A Ross
Division of Neurobiology, Department of Psychiatry at Johns Hopkins University School of Medicine, CMSC 8 121, 600 North Wolfe Street, Baltimore, Maryland 21287, USA
Nat Rev Mol Cell Biol 6:891-8. 2005..This model implies that the pathogenesis of diverse neurodegenerative diseases arises by common mechanisms, and might yield common therapeutic targets... - A compact beta model of huntingtin toxicityQi Charles Zhang
Division of Neurobiology, Department of Psychiatry, Children s Medical Surgical Center, Johns Hopkins University School of Medicine, Baltimore, Mayland 21287, USA
J Biol Chem 286:8188-96. 2011..These data are consistent with an important role for a compact β structure in mutant huntingtin-induced cell toxicity... - Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populationsHeather A Bruce
Departments of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Psychiatr Genet 19:64-71. 2009..We therefore carried out a pilot experiment to explore the potential role of long tandem repeats as risk factors in psychiatric disorders... - Cognitive impairment and psychiatric symptoms in 133 patients with diseases associated with cerebellar degenerationChristine M Liszewski
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Neuropsychiatry Clin Neurosci 16:109-12. 2004..Psychopathology, including depression, personality change, cognitive impairment, anxiety, and psychosis was noted in 51% of 133 patients... - Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disordersChristopher A Ross
Johns Hopkins University School of Medicine, Department of Psychiatry, Division of Neurobiology, Baltimore, MD 21205, USA
Neuron 35:819-22. 2002..Recent studies using transgenic mouse and Drosophila models have helped resolve some of these issues and raise hopes for development of therapeutic targets... - Predictors of neuropathological severity in 100 patients with Huntington's diseaseAdam Rosenblatt
Department of Psychiatry, Johns Hopkins University School of Medicine, Meyer 2 181, 600 North Wolfe Street, Baltimore, MD 21287, USA
Ann Neurol 54:488-93. 2003..Motor impairment appears to be a good clinical measure of neuronal cell loss, at least late in the course of HD and therefore may prove useful in observational and treatment studies... - Huntingtin spheroids and protofibrils as precursors in polyglutamine fibrilizationMichelle A Poirier
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, 615 Ross Research Building, 720 Rutland Avenue, Baltimore, MD 21205, USA
J Biol Chem 277:41032-7. 2002.... - Diagnosis of Huntington diseaseRussell L Margolis
Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Clin Chem 49:1726-32. 2003..Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset... - Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington's diseaseIracema Leroi
Program in Cellular and Molecular Medicine, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Am J Psychiatry 159:1306-14. 2002..These results also support previous findings that the cerebellum may have a role in modulating emotion and cognition... - Characterization of CTG/CAG repeats on chromosome 18: a study of bipolar disorderTheresa Swift-Scanlan
George Browne Genetics Laboratory, Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD 21287-7463, USA
Psychiatr Genet 15:91-9. 2005..These 29 trinucleotide-repeat-containing genes may be involved in functional modulation of their respective proteins, and may be candidates for other diseases or disease mechanisms that map to this region... - Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowthYuji Ozeki
Division of Neurobiology and Department of Psychiatry, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 100:289-94. 2003..As schizophrenia is thought to reflect defects in cortical development that are determined by cytoskeletal protein activities, the cellular disturbances we observe with mutant DISC-1 may be relevant to psychopathologic mechanisms...