Search Results - "Handley, Mark T"

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

“…The ancestral Rab GTPase Rab18 and both subunits of the Rab3GAP complex are mutated in the human neurological and developmental disorder Warburg Micro…”
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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 by 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.

“…blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and…”
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Disease-associated inosine misincorporation into RNA hinders translation by 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

“…Abstract Failure to prevent accumulation of the non-canonical nucleotide inosine triphosphate (ITP) by inosine triphosphate pyrophosphatase (ITPase) during…”
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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy by 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

“…Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic…”
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Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder by Handley, Mark T W, Lian, Lu-Yun, Haynes, Lee P, Burgoyne, Robert D

“…Neuronal calcium sensor-1 (NCS-1) is a Ca(2+) sensor protein that has been implicated in the regulation of various aspects of neuronal development and…”
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RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes by Handley, Mark T, Aligianis, Irene A

“…Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and neurological…”
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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins by 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

“…During neurotransmission, synaptic vesicles undergo multiple rounds of exo-endocytosis, involving recycling and/or degradation of synaptic proteins. While…”
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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature by 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

“…Peroxisomes perform complex metabolic and catabolic functions essential for normal growth and development. Mutations in 14 genes cause a spectrum of…”
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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation by Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.

“…RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a…”
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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome by 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.

“…Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine…”
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Differential dynamics of Rab3A and Rab27A on secretory granules by Handley, Mark T.W, Haynes, Lee P, Burgoyne, Robert D

“…We have assessed the dynamics of the association of Rab3A and Rab27A with secretory granules at various stages of their life in PC12 cells. Endogenous Rab3A…”
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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 by 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

“…Mutations in RAB18 have been shown to cause the heterogeneous autosomal recessive disorder Warburg Micro syndrome (WARBM). Individuals with WARBM present with…”
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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 by Graham, Margaret E, Handley, Mark T W, Barclay, Jeff W, Ciufo, Leo F, Barrow, Stephanie L, Morgan, Alan, Burgoyne, Robert D

“…Munc18-1 plays a crucial role in regulated exocytosis in neurons and neuroendocrine cells through modulation of vesicle docking and membrane fusion. The…”
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Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function by Schroader, Jacob H, Handley, Mark T, Reddy, Kaalak

“…Inosine triphosphate pyrophosphatase (ITPase), encoded by the ITPA gene in humans, is an important enzyme that preserves the integrity of cellular nucleotide…”
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The Functions of Munc18-1 in Regulated Exocytosis by Burgoyne, Robert D., Barclay, Jeff W., Ciufo, Leo F., Graham, Margaret E., Handley, Mark T.W., Morgan, Alan

“…The activation of regulated exocytosis occurs by a rise in cytosolic Ca2+ concentration. Synaptotagmins act as the Ca2+ sensors, whereas the machinery that…”
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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 by Handley, Mark T., Mégarbané, André, Meynert, Alison M., Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S., Jackson, Ian J., Aligianis, Irene A.

“…Autosomal recessive cutis laxa type 3A is caused by mutations in ALDH18A1, a gene encoding the mitochondrial enzyme ∆1‐pyrroline‐5‐carboxylate synthase (P5CS)…”
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Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis by 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.

“…Loss of functional RAB18 causes the autosomal recessive condition Warburg Micro syndrome. To better understand this disease, we used proximity biotinylation to…”
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Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome by 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.

“…ABSTRACT Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal‐recessive developmental disorders characterized by brain, eye, and…”
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The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells by Handley, Mark T.W., Burgoyne, Robert D.

“…Rab proteins are GTPases that transit between GTP- and GDP-bound states. In the GTP-bound form they can recruit specific effector to membrane domains. It is…”
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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 by 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.

“…Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine…”
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