Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances F., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
Published in Open biology (01.06.2015)
Published in Open biology (01.06.2015)
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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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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
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
Published in Disease models & mechanisms (01.06.2014)
Published in Disease models & mechanisms (01.06.2014)
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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
Handley, Mark T., Mégarbané, André, Meynert, Alison M., Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S., Jackson, Ian J., Aligianis, Irene A.
Published in Molecular genetics & genomic medicine (01.07.2014)
Published in Molecular genetics & genomic medicine (01.07.2014)
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Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
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.
Published in The Journal of biological chemistry (01.11.2023)
Published in The Journal of biological chemistry (01.11.2023)
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Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca, Accorsi, Patrizia, Pinelli, Lorenzo, Basel-Vanagaite, Lina, Peretz, Gabriela, Abdel-Salam, Ghada M.H., Zaki, Maha S., Jansen, Anna, Mowat, David, Glass, Ian, Stewart, Helen, Mancini, Grazia, Lederer, Damien, Roscioli, Tony, Giuliano, Fabienne, Plomp, Astrid S., Rolfs, Arndt, Graham, John M., Seemanova, Eva, Poo, Pilar, García-Cazorla, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., Aligianis, Irene A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
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
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat
Bennett, Christopher P, Attie-Bitach, Tania, Lilliquist, Stacie, Pasha, Shanaz, Harris, Peter C, Morgan, Neil V, Malik Sharif, Saghira, Maher, Eamonn R, Johnson, Colin A, Tee, Louise J, Maina, Esther N, Bucourt, Martine, Miller, Caroline A, Ward, Christopher J, Goranson, Erin, Trembath, Richard C, McKee, Brandy M, McKeown, Carole, Consugar, Mark, Torres, Vicente E, Cox, Phillip, Smith, Ursula M, Gattone, Vincent H, Whelan, Shelly, Aligianis, Irene A, Batman, Philip A, Woods, C Geoffrey, AlGazali, Lihadh, Punyashthiti, Rachaneekorn, Gissen, Paul, Kelly, Deirdre A
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
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Journal Article
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Maher, Eamonn R, Newbury-Ecob, Ruth, Tannahill, David, Tee, Louise, Dobyns, William B, Fieggen, Karen, Kjaer, Klaus W, Bond, Jacqueline, Woods, C Geoffery, Harris, Laura W, Rosser, Elisabeth, Cole, Trevor R P, Warburg, Mette, Mundlos, Stefan, Hoffmann, Katrin, Chen, Dongrong, Shield, Julian P, Morgan, Neil V, Clayton-Smith, Jill, Morton, Jenny, Hampshire, Daniel, Mégarbané, André, Stolte-Dijkstra, Irene, Maina, Esther N, Aligianis, Irene A, Trembath, Richard C, Horn, Denise, Johnson, Colin A, Ainsworth, John R, Gissen, Paul, Graham, John M, Takai, Yoshimi
Published in Nature genetics (01.03.2005)
Published in Nature genetics (01.03.2005)
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Journal Article
Germline SDHD mutation in familial phaeochromocytoma
Astuti, Dewi, Douglas, Fiona, Lennard, Thomas WJ, Aligianis, Irene A, Woodward, Emma R, Evans, D Gareth R, Eng, Charis, Latif, Farida, Maher, Eamonn R
Published in The Lancet (British edition) (14.04.2001)
Published in The Lancet (British edition) (14.04.2001)
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Journal Article
Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome
Aligianis, Irene A., Morgan, Neil V., Mione, Marina, Johnson, Colin A., Rosser, Elisabeth, Hennekam, Raoul C., Adams, Gill, Trembath, Richard C., Pilz, Daniela T., Stoodley, Neil, Moore, Anthony T., Wilson, Steve, Maher, Eamonn R.
Published in American journal of human genetics (01.04.2006)
Published in American journal of human genetics (01.04.2006)
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Journal Article
Mutation Spectrum in RAB 3 GAP 1 , RAB 3 GAP 2 , and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca, Accorsi, Patrizia, Pinelli, Lorenzo, Basel-Vanagaite, Lina, Peretz, Gabriela, Abdel-Salam, Ghada M.H., Zaki, Maha S., Jansen, Anna, Mowat, David, Glass, Ian, Stewart, Helen, Mancini, Grazia, Lederer, Damien, Roscioli, Tony, Giuliano, Fabienne, Plomp, Astrid S., Rolfs, Arndt, Graham, John M., Seemanova, Eva, Poo, Pilar, García-Cazorla, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., Aligianis, Irene A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Journal Article
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances C., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
Loss of ALDH 18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
Handley, Mark T., Mégarbané, André, Meynert, Alison M., Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S., Jackson, Ian J., Aligianis, Irene A.
Published in Molecular genetics & genomic medicine (01.07.2014)
Published in Molecular genetics & genomic medicine (01.07.2014)
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Journal Article