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Items: 20

1.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
AbstractArticlePDF–4.5M
2.
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity
Swati Khare, Kira Galeano, Yalan Zhang, Jerelyn A. Nick, Harry S. Nick, S. H. Subramony, Jacinda Sampson, Leonard K. Kaczmarek, Michael F. Waters
Cerebellum. Author manuscript; available in PMC 2021 Jul 23.
Published in final edited form as: Cerebellum. 2018 Oct; 17(5): 692–697. doi: 10.1007/s12311-018-0950-5
PMCID:
PMC8299775
AbstractArticlePDF–664K
3.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
4.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
5.
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking
Swati Khare, Jerelyn A. Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P. W. Ranum, Lisa Smithson, Todd E. Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E. Rincon-Limas, Jada Lewis, Leonard K. Kaczmarek, Pedro Fernandez-Funez, Harry S. Nick, Michael F. Waters
PLoS One. 2017; 12(5): e0173565. Published online 2017 May 3. doi: 10.1371/journal.pone.0173565
PMCID:
PMC5414954
AbstractArticlePDF–7.0M
6.
Kv3.3 potassium channels and spinocerebellar ataxia
Yalan Zhang, Leonard K. Kaczmarek
J Physiol. 2016 Aug 15; 594(16): 4677–4684. Published online 2015 Nov 15. doi: 10.1113/JP271343
PMCID:
PMC4983625
AbstractArticlePDF–548K
7.
Kv3.3 channels bind Hax-1 and Arp2/3 to assemble a stable local actin network that regulates channel gating
Yalan Zhang, Xiao-Feng Zhang, Matthew R. Fleming, Anahita Amiri, Lynda El-Hassar, Alexei A. Surguchev, Callen Hyland, David P. Jenkins, Rooma Desai, Maile R. Brown, Valeswara-Rao Gazula, Michael F. Waters, Charles H. Large, Tamas L. Horvath, Dhasakumar Navaratnam, Flora M. Vaccarino, Paul Forscher, Leonard K. Kaczmarek
Cell. Author manuscript; available in PMC 2017 Apr 7.
Published in final edited form as: Cell. 2016 Apr 7; 165(2): 434–448. Published online 2016 Mar 17. doi: 10.1016/j.cell.2016.02.009
PMCID:
PMC4826296
AbstractArticlePDF–1.8M
8.
Voltage-Gated K+ Channel, Kv3.3 Is Involved in Hemin-Induced K562 Differentiation
Min Seok Song, Seon Young Choi, Pan Dong Ryu, So Yeong Lee
PLoS One. 2016; 11(2): e0148633. Published online 2016 Feb 5. doi: 10.1371/journal.pone.0148633
PMCID:
PMC4743930
AbstractArticlePDF–3.9M
9.
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg, Emma M. Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, Karl Hudspith, Paul Skehel, Jonathan Williams, Mary O’Regan, Sandeep Jayawant, Rosalind Jefferson, Sarah Hughes, Andrea Lustenberger, Jiannis Ragoussis, Mandy Jackson, Stephen J. Tucker, Andrea H. Németh
Brain. 2015 Jul; 138(7): 1817–1832. Published online 2015 May 16. doi: 10.1093/brain/awv117
Correction in:
Brain. 2016 Feb; 139(2): e14.
PMCID:
PMC4572487
AbstractArticlePDF–920K
10.
Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases
Anna Duarri, Esther A. R. Nibbeling, Michiel R. Fokkens, Michel Meijer, Melissa Boerrigter, Corien C. Verschuuren-Bemelmans, Berry P. H. Kremer, Bart P. van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J. Sinke, Dineke S. Verbeek
PLoS One. 2015; 10(3): e0116599. Published online 2015 Mar 10. doi: 10.1371/journal.pone.0116599
PMCID:
PMC4355074
AbstractArticlePDF–623K
11.
KCNC3R420H, a K+ Channel Mutation Causative in Spinocerebellar Ataxia 13 Displays Aberrant Intracellular Trafficking
Carolina Gallego-Iradi, Justin S. Bickford, Swati Khare, Alexis Hall, Jerelyn A. Nick, Donya Salmasinia, Kolja Wawrowsky, Serguei Bannykh, Duong P. Huynh, Diego E. Rincon-Limas, Stefan M. Pulst, Harry S. Nick, Pedro Fernandez-Funez, Michael F. Waters
Neurobiol Dis. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Neurobiol Dis. 2014 Nov; 71: 270–279. Published online 2014 Aug 22. doi: 10.1016/j.nbd.2014.08.020
PMCID:
PMC4181561
AbstractArticlePDF–1.2M
12.
Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
SH Subramony, Joel Advincula, Susan Perlman, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters
Cerebellum. 2013; 12(6): 932–936. Published online 2013 Aug 3. doi: 10.1007/s12311-013-0507-6
PMCID:
PMC3824261
AbstractArticlePDF–315K
13.
Mutation in the Kv3.3 Voltage-Gated Potassium Channel Causing Spinocerebellar Ataxia 13 Disrupts Sound-Localization Mechanisms
John C. Middlebrooks, Harry S. Nick, S. H. Subramony, Joel Advincula, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters
PLoS One. 2013; 8(10): e76749. Published online 2013 Oct 7. doi: 10.1371/journal.pone.0076749
PMCID:
PMC3792041
AbstractArticlePDF–596K
14.
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13
Natali A Minassian, Meng-Chin A Lin, Diane M Papazian
J Physiol. 2012 Apr; 590(Pt 7): 1599–1614. Published online 2012 Jan 30. doi: 10.1113/jphysiol.2012.228205
PMCID:
PMC3413486
AbstractArticlePDF–2.4M
15.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
16.
Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish
Fadi A. Issa, Christopher Mazzochi, Allan F. Mock, Diane M. Papazian
J Neurosci. 2011 May 4; 31(18): 6831–6841. doi: 10.1523/JNEUROSCI.6572-10.2011
PMCID:
PMC3101875
AbstractArticlePDF–2.8M
17.
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)
Karla P. Figueroa, Michael F. Waters, Vartan Garibyan, Thomas D. Bird, Christopher M. Gomez, Laura P. W. Ranum, Natali A. Minassian, Diane M. Papazian, Stefan M. Pulst
PLoS One. 2011; 6(3): e17811. Published online 2011 Mar 29. doi: 10.1371/journal.pone.0017811
PMCID:
PMC3066194
AbstractArticlePDF–977K
18.
KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients
Karla P. Figueroa, Natali A. Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bűrk, Alexis Brice, Alexandra Dűrr, Diane M. Papazian, Stefan-M Pulst
Hum Mutat. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Hum Mutat. 2010 Feb; 31(2): 191–196. doi: 10.1002/humu.21165
PMCID:
PMC2814913
AbstractArticlePDF–478K
19.
Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation
Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice
Am J Hum Genet. 2000 Jul; 67(1): 229–235. Published online 2000 May 11. doi: 10.1086/302958
PMCID:
PMC1287081
AbstractArticlePDF–276K
20.
NADPH-oxidase and a hydrogen peroxide-sensitive K+ channel may function as an oxygen sensor complex in airway chemoreceptors and small cell lung carcinoma cell lines
Dashou Wang, Charlotte Youngson, Veronica Wong, Herman Yeger, Mary C. Dinauer, Eleazar Vega-Saenz de Miera, Bernardo Rudy, Ernest Cutz
Proc Natl Acad Sci U S A. 1996 Nov 12; 93(23): 13182–13187. doi: 10.1073/pnas.93.23.13182
PMCID:
PMC24067
AbstractArticlePDF–459K

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