PMC Links for Gene (Select 3748) - PMC

Select item 82997751.

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

Abstract Article PDF–664K

Select item 49836252.

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

Abstract Article PDF–548K

Select item 47439303.

Voltage-Gated K⁺ Channel, K_v3.3 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

Abstract Article PDF–3.9M

Select item 38242614.

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

Abstract Article PDF–315K

Select item 37920415.

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

Abstract Article PDF–596K

Select item 34134866.

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

Abstract Article PDF–2.4M

Select item 12870817.

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

Abstract Article PDF–276K

Select item 240678.

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

Abstract Article PDF–459K

Select item 43550749.

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

Abstract Article PDF–623K

Select item 418156110.

KCNC3^R420H, 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

Abstract Article PDF–1.2M

Select item 306619411.

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

Abstract Article PDF–977K

Select item 281491312.

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

Abstract Article PDF–478K

Select item 457248713.

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

Abstract Article PDF–920K

Select item 310187514.

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

Abstract Article PDF–2.8M

Select item 541495415.

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

Abstract Article PDF–7.0M

Select item 482629616.

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

Abstract Article PDF–1.8M

Select item 835296417.

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

Abstract Article PDF–4.5M

Select item 553161118.

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

Abstract Article PDF–2.7M

Select item 816503019.

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

Abstract Article PDF–2.2M

Select item 317805920.

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

Abstract Article PDF–1.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 20

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity