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24 results on '"Sampson, Josephina"'

14. Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Author

Beck, Bodo B., Phillips, Jennifer B., Bartram, Malte P., Wegner, Jeremy, Thoenes, Michaela, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Göbel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nürnberg, Gudrun, Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe, and Bolz, Hanno J.

Published
2014
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16. Mitotic phosphorylation regulates Hsp72 spindle localization by uncoupling ATP binding from substrate release

Author

Mukherjee, Manjeet, primary, Sabir, Sarah, additional, O’Regan, Laura, additional, Sampson, Josephina, additional, Richards, Mark W., additional, Huguenin-Dezot, Nicolas, additional, Ault, James R., additional, Chin, Jason W., additional, Zhuravleva, Anastasia, additional, Fry, Andrew M., additional, and Bayliss, Richard, additional

Published
2018
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21. Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

Author

Beck, Bodo B., primary, Phillips, Jennifer B., additional, Bartram, Malte P., additional, Wegner, Jeremy, additional, Thoenes, Michaela, additional, Pannes, Andrea, additional, Sampson, Josephina, additional, Heller, Raoul, additional, Göbel, Heike, additional, Koerber, Friederike, additional, Neugebauer, Antje, additional, Hedergott, Andrea, additional, Nürnberg, Gudrun, additional, Nürnberg, Peter, additional, Thiele, Holger, additional, Altmüller, Janine, additional, Toliat, Mohammad R., additional, Staubach, Simon, additional, Boycott, Kym M., additional, Valente, Enza Maria, additional, Janecke, Andreas R., additional, Eisenberger, Tobias, additional, Bergmann, Carsten, additional, Tebbe, Lars, additional, Wang, Yang, additional, Wu, Yundong, additional, Fry, Andrew M., additional, Westerfield, Monte, additional, Wolfrum, Uwe, additional, and Bolz, Hanno J., additional

Published
2014
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22. Mutation of POC1 B in a Severe Syndromic Retinal Ciliopathy.

Author

Beck, Bodo B., Phillips, Jennifer B., Bartram, Malte P., Wegner, Jeremy, Thoenes, Michaela, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Göbel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nürnberg, Gudrun, Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., and Valente, Enza Maria

Abstract

ABSTRACT We describe a consanguineous Iraqi family with Leber congenital amaurosis ( LCA), Joubert syndrome ( JBTS), and polycystic kidney disease ( PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317 G> C (p. Arg106 Pro), in POC1 B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p. Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1 B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. Knockdown of Poc1b in zebrafish caused cystic kidneys and retinal degeneration with shortened and reduced photoreceptor connecting cilia, compatible with the human syndromic ciliopathy. A recent study describes homozygosity for p. Arg106 Pro POC1B in a family with nonsyndromic cone-rod dystrophy. The phenotype associated with homozygous p. Arg106 Pro POC1B may thus be highly variable, analogous to homozygous p. Leu710 Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome. Our study indicates that POC1 B is required for retinal integrity, and we propose POC1 B mutations as a probable cause for JBTS with severe PKD. [ABSTRACT FROM AUTHOR]

Published
2014
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23. Hsp70 proteins in mitosis and disease.

Author

O'Regan L, Sampson J, and Fry AM

Subjects
Homeostasis, Humans, Kinetochores metabolism, NIMA-Related Kinases, Phosphorylation, Protein Serine-Threonine Kinases metabolism, Spindle Apparatus metabolism, HSP70 Heat-Shock Proteins metabolism, HSP72 Heat-Shock Proteins metabolism, Mitosis, Neurodegenerative Diseases metabolism
Published
2015
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24. Hsp72 is targeted to the mitotic spindle by Nek6 to promote K-fiber assembly and mitotic progression.

Author

O'Regan L, Sampson J, Richards MW, Knebel A, Roth D, Hood FE, Straube A, Royle SJ, Bayliss R, and Fry AM

Subjects
HEK293 Cells, HSP72 Heat-Shock Proteins genetics, HeLa Cells, Humans, Kinetochores metabolism, Microtubule-Associated Proteins genetics, Microtubule-Associated Proteins metabolism, Microtubules genetics, Microtubules metabolism, Mutation, NIMA-Related Kinases, Protein Serine-Threonine Kinases genetics, Spindle Apparatus genetics, HSP72 Heat-Shock Proteins metabolism, Mitosis physiology, Protein Serine-Threonine Kinases metabolism, Spindle Apparatus metabolism
Abstract

Hsp70 proteins represent a family of chaperones that regulate cellular homeostasis and are required for cancer cell survival. However, their function and regulation in mitosis remain unknown. In this paper, we show that the major inducible cytoplasmic Hsp70 isoform, Hsp72, is required for assembly of a robust bipolar spindle capable of efficient chromosome congression. Mechanistically, Hsp72 associates with the K-fiber-stabilizing proteins, ch-TOG and TACC3, and promotes their interaction with each other and recruitment to spindle microtubules (MTs). Targeting of Hsp72 to the mitotic spindle is dependent on phosphorylation at Thr-66 within its nucleotide-binding domain by the Nek6 kinase. Phosphorylated Hsp72 concentrates on spindle poles and sites of MT-kinetochore attachment. A phosphomimetic Hsp72 mutant rescued defects in K-fiber assembly, ch-TOG/TACC3 recruitment and mitotic progression that also resulted from Nek6 depletion. We therefore propose that Nek6 facilitates association of Hsp72 with the mitotic spindle, where it promotes stable K-fiber assembly through recruitment of the ch-TOG-TACC3 complex., (© 2015 O’Regan et al.)

Published
2015
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