Paul J. Lockhart

Overview

Best Publications

• Isolation of a partial candidate gene for Menkes disease by positional cloning.

  Julian F. B. Mercer;Janie Livingston;Bryan Hall;Jennifer A. Paynter

  811
  Citations

• 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.

  M. J. Petris;J. F. B. Mercer;J. G. Culvenor;P. Lockhart

  727
  Citations

• Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons.

  Leonard Petrucelli;Casey O'Farrell;Paul J. Lockhart;Melisa Baptista

  725
  Citations

• Refining analyses of copy number variation identifies specific genes associated with developmental delay

  Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  719
  Citations

• Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

  Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  591
  Citations

• α-synuclein gene haplotypes are associated with Parkinson’s disease

  Matt Farrer;Demetrius M. Maraganore;Paul Lockhart;Andrew Singleton

  422
  Citations

• Translation initiator EIF4G1 mutations in familial Parkinson disease

  Marie Christine Chartier-Harlin;Marie Christine Chartier-Harlin;Justus C. Dachsel;Carles Vilariño-Güell;Sarah J. Lincoln

  389
  Citations

• Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

  Haloom Rafehi;Haloom Rafehi;David J. Szmulewicz;Mark F. Bennett;Mark F. Bennett;Nara L.M. Sobreira

  270
  Citations

• Degeneration in Different Parkinsonian Syndromes Relates to Astrocyte Type and Astrocyte Protein Expression

  Yun Ju C Song;Glenda M Halliday;Janice L Holton;Tammaryn Lashley

  255
  Citations

• The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval

  Alexander Zimprich;Bertram Müller-Myhsok;Matthew Farrer;Petra Leitner

  251
  Citations

• Parkin genetics: one model for Parkinson's disease.

  Ignacio F. Mata;Paul J. Lockhart;Matthew J. Farrer

  248
  Citations

• Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

  Bruno Vaz;Marta Popovic;Joseph A. Newman;John Fielden

  237
  Citations

• Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

  Gabrielle Rosalie Anne-Ma Wilson;Joe Chou Hung Sim;Catriona Ann McLean;Maila Giannandrea

  235
  Citations

• Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux

  James Camakaris;Michael J. Petris;Leanne Bailey;Peiyan Shen

  215
  Citations

• RING finger 1 mutations in Parkin produce altered localization of the protein

  Mark R. Cookson;Paul J. Lockhart;Chris McLendon;Casey O'Farrell

  206
  Citations

• Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

  Davor Lessel;Davor Lessel;Bruno Vaz;Swagata Halder;Swagata Halder;Paul J Lockhart

  204
  Citations

• Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

  Barbara Rivera;Tenzin Gayden;Jian Carrot-Zhang;Javad Nadaf

  200
  Citations

• Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

  Ryan J. Taft;Adeline Vanderver;Richard J. Leventer;Stephen A. Damiani

  199
  Citations

• The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein

  Daniel Strausak;Sharon La Fontaine;Joanne Hill;Stephen D. Firth

  195
  Citations

• Quantitative proteomic analysis of mitochondrial proteins: relevance to Lewy body formation and Parkinson's disease.

  Jinghua Jin;Gloria E. Meredith;Leo Chen;Yong Zhou

  190
  Citations