Cerebellar ataxias: β‐III spectrin's interactions suggest common pathogenic pathways

par Perkins, Emma, Suminaite, Daumante, Jackson, Mandy
Publié dans J Physiol (2016)

A Bi-fluorescence complementation system to detect associations between the Endoplasmic reticulum and mitochondria

par Harmon, Mark, Larkman, Philip, Hardingham, Giles, Jackson, Mandy, Skehel, Paul
Publié dans Sci Rep (2017)

β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

par Clarkson, Yvonne L., Gillespie, Trudi, Perkins, Emma M., Lyndon, Alastair R., Jackson, Mandy
Publié 2010

Control of synaptic vesicle endocytosis by an extracellular signalling molecule

par Smillie, Karen J., Pawson, Jonathan, Perkins, Emma M., Jackson, Mandy, Cousin, Michael A.
Publié 2013

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations

par Clarkson, Yvonne L., Perkins, Emma M., Cairncross, Callum J., Lyndon, Alastair R., Skehel, Paul A., Jackson, Mandy
Publié 2014

β-III Spectrin Is Critical for Development of Purkinje Cell Dendritic Tree and Spine Morphogenesis

par Gao, Yuanzheng, Perkins, Emma M., Clarkson, Yvonne L., Tobia, Steven, Lyndon, Alastair R., Jackson, Mandy, Rothstein, Jeffrey D.
Publié 2011

Colonisation of Irish patients with chronic obstructive pulmonary disease by Streptococcus pneumoniae and analysis of the pneumococcal vaccine coverage: a non-interventional, obser...

par McCarthy, Hannah, Jackson, Mandy, Corcoran, Mary, McElligott, Martha, MacHale, Elaine, Sulaiman, Imran, Cushen, Breda, Costello, Richard W, Humpreys, Hilary
Publié dans BMJ Open (2017)

Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo

par Wishart, Thomas M., Rooney, Timothy M., Lamont, Douglas J., Wright, Ann K., Morton, A. Jennifer, Jackson, Mandy, Freeman, Marc R., Gillingwater, Thomas H.
Publié 2012

Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST

par Perkins, Emma M., Suminaite, Daumante, Clarkson, Yvonne L., Lee, Sin Kwan, Lyndon, Alastair R., Rothstein, Jeffrey D., Wyllie, David J.A., Tanaka, Kohichi, Jackson, Mandy
Publié dans Hum Mol Genet (2016)

Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells

par Perkins, Emma M, Clarkson, Yvonne L, Suminaite, Daumante, Lyndon, Alastair R, Tanaka, Kohichi, Rothstein, Jeffrey D, Skehel, Paul A, Wyllie, David J A, Jackson, Mandy
Publié dans Hum Mol Genet (2018)

Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

par Perkins, Emma M., Clarkson, Yvonne L., Sabatier, Nancy, Longhurst, David M., Millward, Christopher P., Jack, Jennifer, Toraiwa, Junko, Watanabe, Mitsunori, Rothstein, Jeffrey D., Lyndon, Alastair R., Wyllie, David J. A., Dutia, Mayank B., Jackson, Mandy
Publié 2010

MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias

par Brown, Alexander S., Meera, Pratap, Altindag, Banu, Chopra, Ravi, Perkins, Emma M., Paul, Sharan, Scoles, Daniel R., Tarapore, Eric, Magri, Jessica, Huang, Haoran, Jackson, Mandy, Shakkottai, Vikram G., Otis, Thomas S., Pulst, Stefan M., Atwood, Scott X., Oro, Anthony E.
Publié dans Proc Natl Acad Sci U S A (2018)

De novo point mutations in patients diagnosed with ataxic cerebral palsy

par Parolin Schnekenberg, Ricardo, Perkins, Emma M., Miller, Jack W., Davies, Wayne I. L., D’Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A., Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O’Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J., Németh, Andrea H.
Publié dans Brain (2015)

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

par Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Parolin Schnekenberg, Ricardo, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M. Zameel, Hughes, Sarah, Armstrong, Richard J. E., Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C., Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J. L., Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H.
Publié 2012

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

par 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
Publié dans Am J Hum Genet (2017)