Paul J Lockhart
Paul J Lockhart
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Isolation of a partial candidate gene for Menkes disease by positional cloning
JFB Mercer, J Livingston, B Hall, JA Paynter, C Begy, ...
Nature genetics 3 (1), 20-25, 1993
Ligand‐regulated transport of the Menkes copper P‐type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.
MJ Petris, JF Mercer, JG Culvenor, P Lockhart, PA Gleeson, J Camakaris
The EMBO journal 15 (22), 6084-6095, 1996
Parkin protects against the toxicity associated with mutant α-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons
L Petrucelli, C O'Farrell, PJ Lockhart, M Baptista, K Kehoe, L Vink, P Choi, ...
Neuron 36 (6), 1007-1019, 2002
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
α-Synuclein gene haplotypes are associated with Parkinson’s disease
M Farrer, DM Maraganore, P Lockhart, A Singleton, TG Lesnick, ...
Human molecular genetics 10 (17), 1847-1851, 2001
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
Translation initiator EIF4G1 mutations in familial Parkinson disease
MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell, SJ Lincoln, F Leprêtre, ...
The American Journal of Human Genetics 89 (3), 398-406, 2011
UCHL1 is a Parkinson's disease susceptibility gene
DM Maraganore, TG Lesnick, A Elbaz, MC Chartier‐Harlin, T Gasser, ...
Annals of neurology 55 (4), 512-521, 2004
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval
A Zimprich, B Müller-Myhsok, M Farrer, P Leitner, M Sharma, M Hulihan, ...
The American Journal of Human Genetics 74 (1), 11-19, 2004
Parkin genetics: one model for Parkinson's disease
IF Mata, PJ Lockhart, MJ Farrer
Human molecular genetics 13 (suppl_1), R127-R133, 2004
Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux
J Camakaris, MJ Petris, L Bailey, P Shen, P Lockhart, TW Glover, ...
Human Molecular Genetics 4 (11), 2117-2123, 1995
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ...
The American Journal of Human Genetics 95 (6), 729-735, 2014
RING finger 1 mutations in Parkin produce altered localization of the protein
MR Cookson, PJ Lockhart, C McLendon, C O'Farrell, M Schlossmacher, ...
Human molecular genetics 12 (22), 2957-2965, 2003
The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein
D Strausak, S La Fontaine, J Hill, SD Firth, PJ Lockhart, JFB Mercer
Journal of Biological Chemistry 274 (16), 11170-11177, 1999
Quantitative proteomic analysis of mitochondrial proteins: relevance to Lewy body formation and Parkinson's disease
J Jin, GE Meredith, L Chen, Y Zhou, J Xu, FS Shie, P Lockhart, J Zhang
Molecular Brain Research 134 (1), 119-138, 2005
Metalloprotease SPRTN/DVC1 orchestrates replication-coupled DNA-protein crosslink repair
B Vaz, M Popovic, JA Newman, J Fielden, H Aitkenhead, S Halder, ...
Molecular cell 64 (4), 704-719, 2016
Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression
YJC Song, GM Halliday, JL Holton, T Lashley, SS O'Sullivan, H McCann, ...
Journal of Neuropathology & Experimental Neurology 68 (10), 1073-1083, 2009
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ...
Nature genetics 46 (11), 1239-1244, 2014
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
RJ Taft, A Vanderver, RJ Leventer, SA Damiani, C Simons, SM Grimmond, ...
The American Journal of Human Genetics 92 (5), 774-780, 2013
Functional association of the parkin gene promoter with idiopathic Parkinson's disease
AB West, D Maraganore, J Crook, T Lesnick, PJ Lockhart, KM Wilkes, ...
Human molecular genetics 11 (22), 2787-2792, 2002
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