P
Paul J. Lockhart
Researcher at University of Melbourne
Publications - 187
Citations - 9788
Paul J. Lockhart is an academic researcher from University of Melbourne. The author has contributed to research in topics: Parkin & Gene. The author has an hindex of 46, co-authored 164 publications receiving 8418 citations. Previous affiliations of Paul J. Lockhart include Prince of Wales Medical Research Institute & Centre for Cellular and Molecular Biology.
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Journal ArticleDOI
Isolation of a partial candidate gene for Menkes disease by positional cloning.
Julian F. B. Mercer,Janie Livingston,Bryan K. Hall,Jennifer A. Paynter,Catherine R. Begy,Settara C. Chandrasekharappa,Paul J. Lockhart,Andrew Grimes,Mrinal Bhave,David R. Siemieniak,Thomas W. Glover +10 more
TL;DR: Partial sequence of the cDNA shows a unique open reading frame containing putative metal binding motifs which have been found in heavy metal resistance genes in bacteria, which is a strong candidate for the Menkes disease gene.
Journal ArticleDOI
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.
Michael J. Petris,J. F. B. Mercer,Janetta G. Culvenor,Paul J. Lockhart,Paul A. Gleeson,James Camakaris +5 more
TL;DR: It is suggested that MNK continuously recycles between the Golgi and the plasma membrane and elevated copper shifts the steady‐state distribution from the Gol Gi to the plasma membranes, revealing a novel system of regulated protein trafficking which ultimately leads to the efflux of an essential yet potentially toxic ligand.
Journal ArticleDOI
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 J. Baptista,Kathryn Kehoe,Liselot Vink,Peter Choi,Benjamin Wolozin,Matthew J. Farrer,John Hardy,Mark R. Cookson +10 more
TL;DR: Parkin is capable of rescuing the toxic effects of mutant alpha-synuclein or proteasome inhibition in these cells, and parkin and alpha- synuclein are linked by common effects on a pathway associated with selective cell death in catecholaminergic neurons.
Journal ArticleDOI
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,Anneke T. Vulto-van Silfhout,Paolo Bosco,Kathryn Friend,Carl Baker,Serafino Buono,Lisenka E.L.M. Vissers,Janneke H M Schuurs-Hoeijmakers,Alexander Hoischen,Rolph Pfundt,Nik Krumm,Gemma L. Carvill,Deana Li,David G. Amaral,Natasha Brown,Paul J. Lockhart,Ingrid E. Scheffer,Antonino Alberti,Marie Shaw,Rosa Pettinato,Raymond C. Tervo,Nicole de Leeuw,Margot R.F. Reijnders,Beth S. Torchia,Hilde Peeters,Elizabeth A. Thompson,Elizabeth A. Thompson,Brian J. O'Roak,Marco Fichera,Marco Fichera,Jayne Y. Hehir-Kwa,Jay Shendure,Heather C Mefford,Heather C Mefford,Eric Haan,Eric Haan,Jozef Gecz,Bert B.A. de Vries,Corrado Romano,Evan E. Eichler +43 more
TL;DR: An expanded CNV morbidity map was created from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs and an integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function.
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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,Kendra Hoekzema,Kendra Hoekzema,Michaela Fenckova,Malin Kvarnung,Jennifer Gerdts,Sandy Trinh,Nele Cosemans,Laura Vives,Janice Lin,Tychele N. Turner,Gijs W. E. Santen,Claudia A. L. Ruivenkamp,Marjolein Kriek,Arie van Haeringen,Emmelien Aten,Kathryn Friend,Kathryn Friend,Jan Liebelt,Christopher Barnett,Eric Haan,Eric Haan,Marie Shaw,Jozef Gecz,Jozef Gecz,Jozef Gecz,Britt-Marie Anderlid,Ann Nordgren,Anna Lindstrand,Charles E. Schwartz,R. Frank Kooy,Geert Vandeweyer,Céline Helsmoortel,Corrado Romano,Antonino Alberti,Mirella Vinci,Emanuela Avola,Stefania Giusto,Eric Courchesne,Tiziano Pramparo,Karen Pierce,Srinivasa Nalabolu,David G. Amaral,Ingrid E. Scheffer,Ingrid E. Scheffer,Martin B. Delatycki,Paul J. Lockhart,Fereydoun Hormozdiari,Benjamin Harich,Anna Castells-Nobau,Kun Xia,Hilde Peeters,Magnus Nordenskjöld,Annette Schenck,Raphael Bernier,Evan E. Eichler,Evan E. Eichler +60 more
TL;DR: Twenty-five genes showing a bias for autism versus intellectual disability and a network associated with high-functioning autism are highlighted, and clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.