|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
|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
|Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases|
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
|Parkin genetics: one model for Parkinson's disease|
IF Mata, PJ Lockhart, MJ Farrer
Human molecular genetics 13 (suppl_1), R127-R133, 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
|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
|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
|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
|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
|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
|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
|Identification of a novel gene linked to parkin via a bi-directional promoter|
AB West, PJ Lockhart, C O'Farell, MJ Farrer
Journal of molecular biology 326 (1), 11-19, 2003
|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