Genomes and Genes
Paul J Lockhart
Affiliation: Mayo Clinic
- The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3Paul J Lockhart
Mayo Clinic Jacksonville, Birdsall Building, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Gene 285:229-37. 2002..Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3...
- Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brainKate M Brody
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, 3052, Australia
Brain Res 1201:177-86. 2008..These results suggest that the transcriptional co-regulation of Pacrg and parkin leads to a similar regional protein distribution in mouse brain, which may have functional significance for the two proteins...
- Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonismPaul J Lockhart
Department of Neuroscience, Birdsall Building, Mayo Clinic Jacksonville, Florida 32224, USA
Mov Disord 19:1065-9. 2004..Our results and previous studies suggest that alterations to DJ-1 are not a common cause of early-onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified...
- Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body diseasePaul J Lockhart
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
J Mol Neurosci 24:337-42. 2004..We examined a large collection of pathologically confirmed LBD cases and found no evidence for multiplication of the alpha-synuclein gene, suggesting that this mechanism is not a common cause of LBD...
- Identification of a novel gene linked to parkin via a bi-directional promoterAndrew B West
Program for Molecular Neuroscience, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
J Mol Biol 326:11-9. 2003..Although PACRG protein lacks known functional domains, in silico prediction suggests a potential link to the ubiquitin/proteasome system...
- Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysisPaul J Lockhart
Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
DNA Seq 15:9-14. 2004..Northern blot analysis revealed a single USP31 transcript of approximately 4 kb, which was primarily expressed in the testis and lung...
- It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG)Paul J Lockhart
Mayo Clinic Jacksonville, Jacksonville, Florida 32224, USA
Mov Disord 19:101-4. 2004..Homozygous Quaking mice show a complete loss of PRKN and PACRG mRNA and protein. These mice will constitute a useful additional model for studies of the molecular role of parkin and PACRG in neurodegeneration...
- Biochemical characterization of torsinBCasey O'Farrell
Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Brain Res Mol Brain Res 127:1-9. 2004..These results show that torsins A and B are similar proteins, although there are differences in the abundance of the two homologues and in their recruitment into Lewy bodies...
- Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neuronsLeonard Petrucelli
Neurogenetics Laboratory, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
Neuron 36:1007-19. 2002..Therefore, parkin and alpha-synuclein are linked by common effects on a pathway associated with selective cell death in catecholaminergic neurons...
- Parkin genetics: one model for Parkinson's diseaseIgnacio F Mata
Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA
Hum Mol Genet 13:R127-33. 2004..Herein, we compare and contrast PD and AR-JP and discuss the implications of recent data about parkin's genomic organization, regulation and function...
- Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeatsJennifer Hussey
Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
Genet Test 6:217-20. 2002..Using cloning and sequencing methods, we have constructed a ladder of ATX2 alleles of known size and sequence composition. This freely available size ladder will facilitate future quantification of expansions of the ATX2 locus...
- Functional association of the parkin gene promoter with idiopathic Parkinson's diseaseAndrew B West
Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL 32224, USA
Hum Mol Genet 11:2787-92. 2002..Our results further implicate the parkin gene in the development of Parkinson's disease...
- RING finger 1 mutations in Parkin produce altered localization of the proteinMark R Cookson
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
Hum Mol Genet 12:2957-65. 2003..We have replicated this observation in primary cultured neurons and demonstrate, by the accumulation/co-localization of cytoskeletal protein vimentin, that the inclusion bodies are aggresomes, a cellular response to misfolded protein...
- Oligomeric alpha-synuclein inhibits tubulin polymerizationLeo Chen
Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA
Biochem Biophys Res Commun 356:548-53. 2007..Finally, we demonstrated that neurotoxicity induced by oligomeric alpha-synuclein was largely prevented by overexpressing the neuroprotective protein, DJ-1...
- Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseasesJuliet M Taylor
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children s Research Institute, Melbourne, Victoria 3052, Australia
Neurobiol Dis 27:238-47. 2007..Together, these results demonstrate that PACRG is regulated by the ubiquitin-proteasomal system and may play a role in the pathogenesis of Parkinson's disease...