Publications by authors named "Mark Handley"

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Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.
Jacob H Schroader, Mark T Handley, Kaalak Reddy

Wiley Interdiscip Rev RNA· November 2023

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Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
Robert S Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Mark T Handley

J Biol Chem· November 2023

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Disease-associated inosine misincorporation into RNA hinders translation.
Jacob H Schroader, Lindsey A Jones, Ryan Meng, Hannah K Shorrock, Jared I Richardson, Mark T Handley

Nucleic Acids Res· September 2022

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath

PLoS Genet· March 2019

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees

Genet Med· August 2017

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Emma A Hall, Michael S Nahorski, Lyndsay M Murray, Ranad Shaheen, Emma Perkins, Mark T Handley

Am J Hum Genet· May 2017

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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Rachel L Taylor, Mark T Handley, Sarah Waller, Christopher Campbell, Jill Urquhart

Invest Ophthalmol Vis Sci· January 2017

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Mark Handley

Am J Hum Genet· May 2016

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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Mark T Handley, Sarah M Carpanini, Girish R Mali, Duska J Sidjanin, Irene A Aligianis

Open Biol· June 2015

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Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Mark T Handley, André Mégarbané, Alison M Meynert, Stephen Brown, Elisabeth Freyer

Mol Genet Genomic Med· July 2014

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A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.
Sarah M Carpanini, Lisa McKie, Derek Thomson, Ann K Wright, Sarah L Gordon, Mark T Handley

Dis Model Mech· June 2014

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Rab18 and a Rab18 GEF complex are required for normal ER structure.
Andreas Gerondopoulos, Ricardo Nunes Bastos, Shin-Ichiro Yoshimura, Rachel Anderson, Sarah Carpanini, Mark T Handley

J Cell Biol· June 2014

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Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Ryan P Liegel, Mark T Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer

Am J Hum Genet· December 2013

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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy

Hum Mutat· May 2013

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RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
Mark T Handley, Irene A Aligianis

Biochem Soc Trans· December 2012

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Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Danai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, Frances C Bond, Manju A Kurian, Mark T W Handley

Am J Hum Genet· April 2011

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Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder.
Mark T W Handley, Lu-Yun Lian, Lee P Haynes, Robert D Burgoyne

PLoS One· May 2010

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The functions of Munc18-1 in regulated exocytosis.
Robert D Burgoyne, Jeff W Barclay, Leo F Ciufo, Margaret E Graham, Mark T W Handley

Ann N Y Acad Sci· January 2009

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The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells.
Mark T W Handley, Robert D Burgoyne

Biochem Biophys Res Commun· August 2008

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A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3.
Margaret E Graham, Mark T W Handley, Jeff W Barclay, Leo F Ciufo, Stephanie L Barrow

Biochem J· January 2008

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Differential dynamics of Rab3A and Rab27A on secretory granules.
Mark T W Handley, Lee P Haynes, Robert D Burgoyne

J Cell Sci· March 2007

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Insulin-like growth factor binding protein-5 is a target of matrix metalloproteinase-7: implications for epithelial-mesenchymal signaling.
Elaine Hemers, Cedric Duval, Catherine McCaig, Mark Handley, Graham J Dockray

Cancer Res· August 2005

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Extraction and Purification of Proteins from E. Coli without Harvesting Cells.
Anthony Grabski, Don Drott, Mark Handley, Mark Mehler, Robert Novy

ScientificWorldJournal· January 2002

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