Extraction and Purification of Proteins from E. Coli without Harvesting Cells

por Grabski, Anthony, Drott, Don, Handley, Mark, Mehler, Mark, Novy, Robert
Publicado 2002

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

por Handley, Mark T. W., Lian, Lu-Yun, Haynes, Lee P., Burgoyne, Robert D.
Publicado 2010

Rab18 and a Rab18 GEF complex are required for normal ER structure

por Gerondopoulos, Andreas, Bastos, Ricardo Nunes, Yoshimura, Shin-ichiro, Anderson, Rachel, Carpanini, Sarah, Aligianis, Irene, Handley, Mark T., Barr, Francis A.
Publicado 2014

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

por Handley, Mark T, Mégarbané, André, Meynert, Alison M, Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S, Jackson, Ian J, Aligianis, Irene A
Publicado 2014

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

por Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
Publicado 2015

Disease-associated inosine misincorporation into RNA hinders translation

por Schroader, Jacob H, Jones, Lindsey A, Meng, Ryan, Shorrock, Hannah K, Richardson, Jared I, Shaughnessy, Sharon M, Lin, Qishan, Begley, Thomas J, Berglund, J Andrew, Fuchs, Gabriele, Handley, Mark T, Reddy, Kaalak
Publicado 2022

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

por Carpanini, Sarah M., McKie, Lisa, Thomson, Derek, Wright, Ann K., Gordon, Sarah L., Roche, Sarah L., Handley, Mark T., Morrison, Harris, Brownstein, David, Wishart, Thomas M., Cousin, Michael A., Gillingwater, Thomas H., Aligianis, Irene A., Jackson, Ian J.
Publicado 2014

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

por Taylor, Rachel L., Handley, Mark T., Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M., Ellingford, Jamie M., Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I. Chris, Mundy, Helen, FitzPatrick, David R., Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C.
Publicado 2017

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

por Handley, Mark T., Reddy, Kaalak, Wills, Jimi, Rosser, Elisabeth, Kamath, Archith, Halachev, Mihail, Falkous, Gavin, Williams, Denise, Cox, Phillip, Meynert, Alison, Raymond, Eleanor S., Morrison, Harris, Brown, Stephen, Allan, Emma, Aligianis, Irene, Jackson, Andrew P., Ramsahoye, Bernard H., von Kriegsheim, Alex, Taylor, Robert W., Finch, Andrew J., FitzPatrick, David R.
Publicado 2019

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

por Kiss, Robert S., Chicoine, Jarred, Khalil, Youssef, Sladek, Robert, Chen, He, Pisaturo, Alessandro, Martin, Cyril, Dale, Jessica D., Brudenell, Tegan A., Kamath, Archith, Kyei-Boahen, Jeffrey, Hafiane, Anouar, Daliah, Girija, Alecki, Célia, Hopes, Tayah S., Heier, Martin, Aligianis, Irene A., Lebrun, Jean-Jacques, Aspden, Julie, Paci, Emanuele, Kerksiek, Anja, Lütjohann, Dieter, Clayton, Peter, Wills, Jimi C., von Kriegsheim, Alex, Nilsson, Tommy, Sheridan, Eamonn, Handley, Mark T.
Publicado 2023

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

por Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Publicado 2017

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

por Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine
Publicado 2017

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

por McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Publicado 2016