Search Results - Mark T. Handley

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  1. 1
    Differential dynamics of Rab3A and Rab27A on secretory granules

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

    Published 2007
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  2. 2
    Structural and Functional Deficits in a Neuronal Calcium Sensor-1 Mutant Identified in a Case of Autistic Spectrum Disorder

    Structural and Functional Deficits in a Neuronal Calcium Sensor-1 Mutant Identified in a Case of Autistic Spectrum Disorder by Mark T. Handley, Lu‐Yun Lian, Lee P. Haynes, Robert D. Burgoyne

    Published 2010
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  3. 3
    Insulin-Like Growth Factor Binding Protein-5 Is a Target of Matrix Metalloproteinase-7: Implications for Epithelial-Mesenchymal Signaling

    Insulin-Like Growth Factor Binding Protein-5 Is a Target of Matrix Metalloproteinase-7: Implications for Epithelial-Mesenchymal Signaling by Elaine Hemers, Cédric Duval, Catherine McCaig, Mark T. Handley, Graham J. Dockray, Andrea Varró

    Published 2005
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  4. 4
    Functional Interaction of Human Immunodeficiency Virus Type 1 Vpu and Gag with a Novel Member of the Tetratricopeptide Repeat Protein Family

    Functional Interaction of Human Immunodeficiency Virus Type 1 Vpu and Gag with a Novel Member of the Tetratricopeptide Repeat Protein Family by Michael A. Callahan, Mark A. Handley, Yung-Hui Lee, Katrin J. Talbot, J. Wade Harper, Antonito T. Panganiban

    Published 1998
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  5. 5
    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

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

    Published 2015
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  6. 6
    Rab18 and a Rab18 GEF complex are required for normal ER structure

    Rab18 and a Rab18 GEF complex are required for normal ER structure by Andreas Gerondopoulos, Ricardo Bastos, Shin‐ichiro Yoshimura, Rachel Anderson, Sarah M. Carpanini, Irene A. Aligianis, Mark T. Handley, Francis A. Barr

    Published 2014
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  7. 7
    A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

    A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton by Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley, Harris Morrison, David G. Brownstein, Thomas M. Wishart, Michael A. Cousin, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson

    Published 2014
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  8. 8
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Published 2013
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  9. 9
    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome by Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, F. F. Bond, Manju A. Kurian, Fatima Rahman, Mark T. Handley, Yavor Hadzhiev, Imran Masood, Ania Straatman‐Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz Pasha, Gail Kirby, Katharine Foster, Zubair Ahmed, Jenny E.V. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Bürglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

    Published 2011
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  10. 10
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 by Hemant Bengani, Mark T. Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, Malin Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton‐Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker, David Fitzpatrick

    Published 2017
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  11. 11
    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins by Emma A. Hall, Michael S. Nahorski, Lyndsay M. Murray, Ranad Shaheen, Emma Perkins, Kosala N. Dissanayake, Yosua Kristaryanto, Ross A. Jones, Julie Vogt, Manon Rivagorda, Mark T. Handley, Girish R. Mali, Tooba Quidwai, Dinesh C. Soares, Margaret Keighren, Lisa McKie, Richard L. Mort, Noor Gammoh, Amaya García-Muñoz, Tracey Davey, Matthieu Vermeren, Diana Chapman Walsh, Peter S. Budd, Irene A. Aligianis, Eissa Faqeih, Alan J. Quigley, Ian J. Jackson, Yogesh Kulathu, M. T. Jackson, Richard R. Ribchester, Alex von Kriegsheim, Fowzan S. Alkuraya, C. Geoffrey Woods, Eamonn R. Maher, Pleasantine Mill

    Published 2017
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  12. 12
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect by Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    Published 2016
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