Publications by authors named "Wayne N Frankel"

58Publications

Expression of the Neuronal tRNA n-Tr20 Regulates Synaptic Transmission and Seizure Susceptibility.

Neuron 2020 Oct 26;108(1):193-208.e9. Epub 2020 Aug 26.

Howard Hughes Medical Institute, Department of Cellular and Molecular Medicine, Section of Neurobiology, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2020.07.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572898PMC
October 2020

RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.

Mol Ther 2020 07 16;28(7):1706-1716. Epub 2020 Apr 16.

Institute for Genomic Medicine and Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2020.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335739PMC
July 2020

Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.

Neurobiol Dis 2020 04 21;137:104758. Epub 2020 Jan 21.

Department of Genetics & Development, Institute for Genomic Medicine, Columbia University, New York, NY 10032, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.104758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315256PMC
April 2020

Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression.

Epilepsy Curr 2020 Jan-Feb;20(1_suppl):14S-22S. Epub 2020 Jan 15.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1177/1535759719895274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031802PMC
January 2020

Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA receptors.

Neurobiol Dis 2020 02 31;134:104632. Epub 2019 Oct 31.

Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States of America; Department of Genetic and Development, Columbia University Irving Medical Center, New York, NY, United States of America.

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http://dx.doi.org/10.1016/j.nbd.2019.104632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6980672PMC
February 2020

PRAS: Predicting functional targets of RNA binding proteins based on CLIP-seq peaks.

PLoS Comput Biol 2019 08 19;15(8):e1007227. Epub 2019 Aug 19.

The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1007227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716675PMC
August 2019

KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.

Nature 2017 03 15;543(7645):438-442. Epub 2017 Feb 15.

Whitehead Institute for Biomedical Research and Massachusetts Institute of Technology, Department of Biology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA.

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http://dx.doi.org/10.1038/nature21423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360989PMC
March 2017

Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks.

Genome Res 2016 10 11;26(10):1411-1416. Epub 2016 Aug 11.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York 10032, USA; Department of Genetics and Development, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/gr.199828.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052052PMC
October 2016

Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.

Neurobiol Dis 2016 Nov 28;95:1-11. Epub 2016 Jun 28.

The Jackson Laboratory, Bar Harbor, ME 04609, United States.

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http://dx.doi.org/10.1016/j.nbd.2016.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010951PMC
November 2016

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Neurol Genet 2015 Jun 17;1(1):e4. Epub 2015 Apr 17.

Department of Molecular Genetics and Microbiology (S.S.B.), Duke University School of Medicine (R.S.D., S.S.B., X.Y.), Durham, NC; Institute for Genomic Medicine (E.L.H., S.P., B.J.K., D.B.G.), Columbia University, New York, NY; Department of Medicine (S. Petrovski), The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Australia; Centre for Clinical Translation (M.R.J.), Division of Brain Sciences, Imperial College London, Charing Cross Hospital Campus, London, United Kingdom; The Jackson Laboratory (W.N.F., R.M.B.), Bar Harbor, ME; and Division of Epilepsy (S. Petrou), The Florey Institute of Neuroscience, Victoria, Australia.

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http://dx.doi.org/10.1212/01.NXG.0000464295.65736.daDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821085PMC
June 2015

Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy.

PLoS Genet 2014 Jul 10;10(7):e1004454. Epub 2014 Jul 10.

The Jackson Laboratory, Bar Harbor, Maine, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091709PMC
July 2014

Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells.

J Neurosci 2014 Jan;34(3):705-16

InnerEarLab, Department of Otolaryngology, Molecular Architecture of Synapses Group, InnerEarLab, Department of Otolaryngology, and Department of Neurology, University Medical Center Göttingen, D-37099 Göttingen, Germany, Collaborative Research Center 889, International Max Planck Research Schools, Neuroscience, Göttingen Graduate School for Neuroscience, Biophysics, and Molecular Biosciences, Research Center for Nanoscale Microscopy and Molecular Physiology of the Brain, and Bernstein Focus for Neurotechnology, University of Göttingen, D-37073 Göttingen, Germany, and The Jackson Laboratory, Bar Harbor, Maine 04609.

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http://www.jneurosci.org/content/34/3/705.full.pdf
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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.3313-13.2
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http://dx.doi.org/10.1523/JNEUROSCI.3313-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891952PMC
January 2014

Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.

J Physiol 2013 Jan 22;591(1):241-55. Epub 2012 Oct 22.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609-1500, USA.

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http://doi.wiley.com/10.1113/jphysiol.2012.240168
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http://dx.doi.org/10.1113/jphysiol.2012.240168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3630783PMC
January 2013

The genomic landscape shaped by selection on transposable elements across 18 mouse strains.

Genome Biol 2012 Jun 15;13(6):R45. Epub 2012 Jun 15.

MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1186/gb-2012-13-6-r45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446317PMC
June 2012

A new mode of corticothalamic transmission revealed in the Gria4(-/-) model of absence epilepsy.

Nat Neurosci 2011 Aug 21;14(9):1167-73. Epub 2011 Aug 21.

Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1038/nn.2896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308017PMC
August 2011

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.

Neurobiol Dis 2011 Mar 13;41(3):655-60. Epub 2010 Dec 13.

Neuroscience Graduate Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1016/j.nbd.2010.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035952PMC
March 2011

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats.

Authors:
Wayne N Frankel

Trends Genet 2009 Aug 6;25(8):361-7. Epub 2009 Aug 6.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1016/j.tig.2009.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736783PMC
August 2009

A targeted deleterious allele of the splicing factor SCNM1 in the mouse.

Genetics 2008 Nov 14;180(3):1419-27. Epub 2008 Sep 14.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618, USA.

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http://dx.doi.org/10.1534/genetics.108.094227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2581945PMC
November 2008

Interaction between fidgetin and protein kinase A-anchoring protein AKAP95 is critical for palatogenesis in the mouse.

J Biol Chem 2006 Aug 2;281(31):22352-9. Epub 2006 Jun 2.

Jackson Laboratory, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1074/jbc.M603626200DOI Listing
August 2006

Auditory brainstem responses in 10 inbred strains of mice.

Brain Res 2006 May 3;1091(1):16-26. Epub 2006 Mar 3.

College of Life Sciences, East China Normal University, Shanghai 200062, PR China.

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http://linkinghub.elsevier.com/retrieve/pii/S000689930600306
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http://dx.doi.org/10.1016/j.brainres.2006.01.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859191PMC
May 2006

A spontaneous mutation involving Kcnq2 (Kv7.2) reduces M-current density and spike frequency adaptation in mouse CA1 neurons.

J Neurosci 2006 Feb;26(7):2053-9

Anticonvulsant Drug Development Program, Department of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.1575-05.2006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6674924PMC
February 2006

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

Hum Mol Genet 2006 Mar 7;15(6):1043-8. Epub 2006 Feb 7.

Department of Human Genetics, 4909 Buhl Building 0618, 1241 E. Catherine Street, Ann Arbor, MI 48109-0618, USA.

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http://academic.oup.com/hmg/article/15/6/1043/582428/Severe-
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http://dx.doi.org/10.1093/hmg/ddl019DOI Listing
March 2006

Gait analysis detects early changes in transgenic SOD1(G93A) mice.

Muscle Nerve 2005 Jul;32(1):43-50

The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1002/mus.20228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1350398PMC
July 2005

Functional characterization of fidgetin, an AAA-family protein mutated in fidget mice.

Exp Cell Res 2005 Mar 10;304(1):50-8. Epub 2004 Dec 10.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1016/j.yexcr.2004.11.014DOI Listing
March 2005

A targeted mutation in Cacng4 exacerbates spike-wave seizures in stargazer (Cacng2) mice.

Proc Natl Acad Sci U S A 2005 Feb 26;102(6):2123-8. Epub 2005 Jan 26.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1073/pnas.0409527102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC548574PMC
February 2005

Large-scale mutagenesis of the mouse to understand the genetic bases of nervous system structure and function.

Brain Res Mol Brain Res 2004 Dec;132(2):105-15

Dept. Anatomy and Neurobiology, University of Tennessee Health Science Center, 855 Monroe Ave., Memphis, TN 38163, United States.

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http://dx.doi.org/10.1016/j.molbrainres.2004.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773686PMC
December 2004

Mutation rate and predicted phenotypic target sizes in ethylnitrosourea-treated mice.

Genetics 2004 Oct;168(2):953-9

University of California-San Diego School of Medicine, San Diego, California 92093-0644, USA.

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http://dx.doi.org/10.1534/genetics.104.029843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1448829PMC
October 2004

Genetic and phenotypic analysis of seizure susceptibility in PL/J mice.

Mamm Genome 2004 Sep;15(9):698-703

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1007/s00335-004-3007-7DOI Listing
September 2004

Mice carrying the szt1 mutation exhibit increased seizure susceptibility and altered sensitivity to compounds acting at the m-channel.

Epilepsia 2004 Sep;45(9):1009-16

Anticonvulsant Drug Development Program, Department of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah 84112, USA.

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http://doi.wiley.com/10.1111/j.0013-9580.2004.65703.x
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http://dx.doi.org/10.1111/j.0013-9580.2004.65703.xDOI Listing
September 2004

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene.

Hum Mol Genet 2004 Sep 14;13(18):2143-53. Epub 2004 Jul 14.

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

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http://dx.doi.org/10.1093/hmg/ddh218DOI Listing
September 2004

Genetic approaches to studying mouse models of human seizure disorders.

Adv Exp Med Biol 2004 ;548:1-11

The Jackson Laboratory, Bar Harbor, Maine, USA.

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http://dx.doi.org/10.1007/978-1-4757-6376-8_1DOI Listing
August 2004

Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13.

Mamm Genome 2004 May;15(5):344-51

Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.

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http://dx.doi.org/10.1007/s00335-004-2332-1DOI Listing
May 2004

Moving forward with chemical mutagenesis in the mouse.

J Physiol 2004 Jan;554(Pt 1):13-21

The Jackson Laboratory, Bar Harbor, ME, USA.

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http://dx.doi.org/10.1113/jphysiol.2003.049494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1664738PMC
January 2004

Phenotypic heterogeneity in the stargazin allelic series.

Mamm Genome 2003 Aug;14(8):506-13

The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1007/s00335-003-2268-xDOI Listing
August 2003

Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold.

Hum Mol Genet 2003 May;12(9):975-84

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1093/hmg/ddg118DOI Listing
May 2003

Initial sequencing and comparative analysis of the mouse genome.

Authors:
Robert H Waterston Kerstin Lindblad-Toh Ewan Birney Jane Rogers Josep F Abril Pankaj Agarwal Richa Agarwala Rachel Ainscough Marina Alexandersson Peter An Stylianos E Antonarakis John Attwood Robert Baertsch Jonathon Bailey Karen Barlow Stephan Beck Eric Berry Bruce Birren Toby Bloom Peer Bork Marc Botcherby Nicolas Bray Michael R Brent Daniel G Brown Stephen D Brown Carol Bult John Burton Jonathan Butler Robert D Campbell Piero Carninci Simon Cawley Francesca Chiaromonte Asif T Chinwalla Deanna M Church Michele Clamp Christopher Clee Francis S Collins Lisa L Cook Richard R Copley Alan Coulson Olivier Couronne James Cuff Val Curwen Tim Cutts Mark Daly Robert David Joy Davies Kimberly D Delehaunty Justin Deri Emmanouil T Dermitzakis Colin Dewey Nicholas J Dickens Mark Diekhans Sheila Dodge Inna Dubchak Diane M Dunn Sean R Eddy Laura Elnitski Richard D Emes Pallavi Eswara Eduardo Eyras Adam Felsenfeld Ginger A Fewell Paul Flicek Karen Foley Wayne N Frankel Lucinda A Fulton Robert S Fulton Terrence S Furey Diane Gage Richard A Gibbs Gustavo Glusman Sante Gnerre Nick Goldman Leo Goodstadt Darren Grafham Tina A Graves Eric D Green Simon Gregory Roderic Guigó Mark Guyer Ross C Hardison David Haussler Yoshihide Hayashizaki LaDeana W Hillier Angela Hinrichs Wratko Hlavina Timothy Holzer Fan Hsu Axin Hua Tim Hubbard Adrienne Hunt Ian Jackson David B Jaffe L Steven Johnson Matthew Jones Thomas A Jones Ann Joy Michael Kamal Elinor K Karlsson Donna Karolchik Arkadiusz Kasprzyk Jun Kawai Evan Keibler Cristyn Kells W James Kent Andrew Kirby Diana L Kolbe Ian Korf Raju S Kucherlapati Edward J Kulbokas David Kulp Tom Landers J P Leger Steven Leonard Ivica Letunic Rosie Levine Jia Li Ming Li Christine Lloyd Susan Lucas Bin Ma Donna R Maglott Elaine R Mardis Lucy Matthews Evan Mauceli John H Mayer Megan McCarthy W Richard McCombie Stuart McLaren Kirsten McLay John D McPherson Jim Meldrim Beverley Meredith Jill P Mesirov Webb Miller Tracie L Miner Emmanuel Mongin Kate T Montgomery Michael Morgan Richard Mott James C Mullikin Donna M Muzny William E Nash Joanne O Nelson Michael N Nhan Robert Nicol Zemin Ning Chad Nusbaum Michael J O'Connor Yasushi Okazaki Karen Oliver Emma Overton-Larty Lior Pachter Genís Parra Kymberlie H Pepin Jane Peterson Pavel Pevzner Robert Plumb Craig S Pohl Alex Poliakov Tracy C Ponce Chris P Ponting Simon Potter Michael Quail Alexandre Reymond Bruce A Roe Krishna M Roskin Edward M Rubin Alistair G Rust Ralph Santos Victor Sapojnikov Brian Schultz Jörg Schultz Matthias S Schwartz Scott Schwartz Carol Scott Steven Seaman Steve Searle Ted Sharpe Andrew Sheridan Ratna Shownkeen Sarah Sims Jonathan B Singer Guy Slater Arian Smit Douglas R Smith Brian Spencer Arne Stabenau Nicole Stange-Thomann Charles Sugnet Mikita Suyama Glenn Tesler Johanna Thompson David Torrents Evanne Trevaskis John Tromp Catherine Ucla Abel Ureta-Vidal Jade P Vinson Andrew C Von Niederhausern Claire M Wade Melanie Wall Ryan J Weber Robert B Weiss Michael C Wendl Anthony P West Kris Wetterstrand Raymond Wheeler Simon Whelan Jamey Wierzbowski David Willey Sophie Williams Richard K Wilson Eitan Winter Kim C Worley Dudley Wyman Shan Yang Shiaw-Pyng Yang Evgeny M Zdobnov Michael C Zody Eric S Lander

Nature 2002 Dec;420(6915):520-62

Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA.

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http://dx.doi.org/10.1038/nature01262DOI Listing
December 2002

The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.

Genomics 2002 Feb;79(2):146-9

The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1006/geno.2002.6685DOI Listing
February 2002