Search Results - "Zlamalova, Eliska"

ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic by Connell, James W., Allison, Rachel J., Rodger, Catherine E., Pearson, Guy, Zlamalova, Eliska, Reid, Evan

“…Mutations in the gene encoding the microtubule severing ATPase spastin are the most frequent cause of hereditary spastic paraplegia, a genetic condition…”
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Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons by Zlamalova, Eliska, Rodger, Catherine, Greco, Francesca, Cheers, Samuel R., Kleniuk, Julia, Nadadhur, Aishwarya G., Kadlecova, Zuzana, Reid, Evan

“…Mutation of the ATL1 gene is one of the most common causes of hereditary spastic paraplegia (HSP), a group of genetic neurodegenerative conditions…”
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Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V. V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B. A., Saleem, Moin A., Smith, Kenneth G. C., Stark, Hannah, Tan, Rhea Y. Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Kingston, Nathalie, Walker, Neil, Bradley, John R., Ashford, Sofie, Penkett, Christopher J., Freson, Kathleen, Stirrups, Kathleen E., Raymond, F. Lucy, Ouwehand, Willem H.

“…Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders…”
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Generation of a Spindle Checkpoint Arrest from Synthetic Signaling Assemblies by Yuan, Ivan, Leontiou, Ioanna, Amin, Priya, May, Karen M., Soper Ní Chafraidh, Sadhbh, Zlámalová, Eliška, Hardwick, Kevin G.

“…The spindle checkpoint acts as a mitotic surveillance system, monitoring interactions between kinetochores and spindle microtubules and ensuring high-fidelity…”
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