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Select item 78860391.

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

Maxime Lafontaine, Anne‐Sophie Lia, Sylvie Bourthoumieu, Hélène Beauvais‐Dzugan, Paco Derouault, Marie‐Christine Arné‐Bes, Catherine Sarret, Fanny Laffargue, Armelle Magot, Franck Sturtz, Laurent Magy, Corinne Magdelaine

Ann Clin Transl Neurol. 2021 Feb; 8(2): 471–476. Published online 2021 Jan 6. doi: 10.1002/acn3.51175

PMCID:: PMC7886039

Abstract Article PDF–282K

Select item 64678042.

Cerebral hypomyelination associated with biallelic variants of FIG4

Guy M. Lenk, Ian R. Berry, Chloe A. Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Fanjul-Fernandez Miriam, Rodriguez-Casero Victoria, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Broad Center for Mendelian Genomics, Susan M. White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y. Tan, Richard J. Leventer, John H. Livingston, Miriam H. Meisler

Hum Mutat. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Hum Mutat. 2019 May; 40(5): 619–630. Published online 2019 Feb 28. doi: 10.1002/humu.23720

PMCID:: PMC6467804

Abstract Article PDF–583K

Select item 59129823.

Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelination

Bo Hu, Megan Mccollum, Vignesh Ravi, Sezgi Arpag, Daniel Moiseev, Ryan Castoro, Bret C. Mobley, Bryan W. Burnette, Carly Siskind, John W. Day, Robin Yawn, Shawna Feely, Yuebing Li, Qing Yan, Michael E. Shy, Jun Li

Ann Neurol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Ann Neurol. 2018 Apr; 83(4): 756–770. Published online 2018 Mar 30. doi: 10.1002/ana.25198

PMCID:: PMC5912982

Abstract Article PDF–3.4M

Select item 53155184.

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber

Eur J Hum Genet. 2017 Mar; 25(3): 324–331. Published online 2017 Jan 4. doi: 10.1038/ejhg.2016.186

PMCID:: PMC5315518

Abstract Article PDF–1.6M

Select item 39629895.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Stéphanie Baulac, Guy M. Lenk, Béatrice Dufresnois, Bouchra Ouled Amar Bencheikh, Philippe Couarch, Julie Renard, Peter A. Larson, Cole J. Ferguson, Eric Noé, Karine Poirier, Christine Hubans, Stéphanie Ferreira, Renzo Guerrini, Reda Ouazzani, Khalid Hamid El Hachimi, Miriam H. Meisler, Eric Leguern

Neurology. 2014 Mar 25; 82(12): 1068–1075. doi: 10.1212/WNL.0000000000000241

PMCID:: PMC3962989

Abstract Article PDF–966K

Select item 39105336.

The PIKfyve-ArPIKfyve-Sac3 triad in human breast cancer: functional link between elevated Sac3 phosphatase and enhanced proliferation of triple negative cell lines

Ognian C. Ikonomov, Catherine Filios, Diego Sbrissa, Xuequn Chen, Assia Shisheva

Biochem Biophys Res Commun. Author manuscript; available in PMC 2014 Oct 18.

Published in final edited form as: Biochem Biophys Res Commun. 2013 Oct 18; 440(2): 342–347. Published online 2013 Sep 23. doi: 10.1016/j.bbrc.2013.09.080

PMCID:: PMC3910533

Abstract Article PDF–1.4M

Select item 31223787.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4

Garth Nicholson, Guy M. Lenk, Stephen W. Reddel, Adrienne E. Grant, Charles F. Towne, Cole J. Ferguson, Ericka Simpson, Angela Scheuerle, Michelle Yasick, Stuart Hoffman, Randall Blouin, Carla Brandt, Giovanni Coppola, Leslie G. Biesecker, Sat D. Batish, Miriam H. Meisler

Brain. 2011 Jul; 134(7): 1959–1971. Published online 2011 Jun 23. doi: 10.1093/brain/awr148

PMCID:: PMC3122378

Abstract Article PDF–889K

Select item 26680338.

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Clement Y. Chow, John E. Landers, Sarah K. Bergren, Peter C. Sapp, Adrienne E. Grant, Julie M. Jones, Lesley Everett, Guy M. Lenk, Diane M. McKenna-Yasek, Lois S. Weisman, Denise Figlewicz, Robert H. Brown, Miriam H. Meisler

Am J Hum Genet. 2009 Jan 9; 84(1): 85–88. doi: 10.1016/j.ajhg.2008.12.010

PMCID:: PMC2668033

Abstract Article PDF–131K

Select item 60308999.

Protective role of the lipid phosphatase Fig4 in the adult nervous system

Yevgeniya A Mironova, Jing-Ping Lin, Ashley L Kalinski, Lucas D Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger

Hum Mol Genet. 2018 Jul 15; 27(14): 2443–2453. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy145

PMCID:: PMC6030899

Abstract Article PDF–1.3M

Select item 465370710.

The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation

Ognian C. Ikonomov, Diego Sbrissa, Lauren M. Compton, Rita Kumar, Ellen J. Tisdale, Xuequn Chen, Assia Shisheva

J Biol Chem. 2015 Nov 20; 290(47): 28515–28529. Published online 2015 Sep 24. doi: 10.1074/jbc.M115.669929

PMCID:: PMC4653707

Abstract Article PDF–2.1M

Select item 364464111.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

Am J Hum Genet. 2013 May 2; 92(5): 781–791. doi: 10.1016/j.ajhg.2013.03.020

PMCID:: PMC3644641

Abstract Article PDF–1.3M

Select item 293067412.

ArPIKfyve Regulates Sac3 Protein Abundance and Turnover: DISRUPTION OF THE MECHANISM BY Sac3^I41T MUTATION CAUSING CHARCOT-MARIE-TOOTH 4J DISORDER

Ognian C. Ikonomov, Diego Sbrissa, Jason Fligger, Khortnal Delvecchio, Assia Shisheva

J Biol Chem. 2010 Aug 27; 285(35): 26760–26764. Published online 2010 Jul 14. doi: 10.1074/jbc.C110.154658

PMCID:: PMC2930674

Abstract Article PDF–1.3M

Select item 279100913.

PIKfyve-ArPIKfyve-Sac3 Core Complex: CONTACT SITES AND THEIR CONSEQUENCE FOR Sac3 PHOSPHATASE ACTIVITY AND ENDOCYTIC MEMBRANE HOMEOSTASIS

Ognian C. Ikonomov, Diego Sbrissa, Homer Fenner, Assia Shisheva

J Biol Chem. 2009 Dec 18; 284(51): 35794–35806. Published online 2009 Oct 19. doi: 10.1074/jbc.M109.037515

PMCID:: PMC2791009

Abstract Article PDF–2.6M

Select item 275675814.

ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality

Diego Sbrissa, Ognian C. Ikonomov, Homer Fenner, Assia Shisheva

J Mol Biol. Author manuscript; available in PMC 2009 Dec 26.

Published in final edited form as: J Mol Biol. 2008 Dec 26; 384(4): 766–779. Published online 2008 Oct 11. doi: 10.1016/j.jmb.2008.10.009

PMCID:: PMC2756758

Abstract Article PDF–1.8M

Select item 227103315.

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Clement Y. Chow, Yanling Zhang, James J. Dowling, Natsuko Jin, Maja Adamska, Kensuke Shiga, Kinga Szigeti, Michael E. Shy, Jun Li, Xuebao Zhang, James R. Lupski, Lois S. Weisman, Miriam H. Meisler

Nature. Author manuscript; available in PMC 2008 Mar 21.

Published in final edited form as: Nature. 2007 Jul 5; 448(7149): 68–72. Published online 2007 Jun 17. doi: 10.1038/nature05876

PMCID:: PMC2271033

Abstract Article PDF–2.8M

Select item 752581516.

Roles for a lipid phosphatase in the activation of its opposing lipid kinase

Bethany S. Strunk, Noah Steinfeld, Sora Lee, Natsuko Jin, Cecilia Muñoz-Rivera, Garrison Meeks, Asha Thomas, Camille Akemann, Anna K. Mapp, Jason A. MacGurn, Lois S. Weisman

Mol Biol Cell. 2020 Aug 1; 31(17): 1835–1845. doi: 10.1091/mbc.E18-09-0556

PMCID:: PMC7525815

Abstract Article PDF–3.5M

Select item 448839617.

The Amyloid Precursor Protein Controls PIKfyve Function

Zita Balklava, Christian Niehage, Heather Currinn, Laura Mellor, Benjamin Guscott, Gino Poulin, Bernard Hoflack, Thomas Wassmer

PLoS One. 2015; 10(6): e0130485. Published online 2015 Jun 30. doi: 10.1371/journal.pone.0130485

PMCID:: PMC4488396

Abstract Article PDF–9.5M

Select item 260065318.

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P₂ in yeast and mouse

Natsuko Jin, Clement Y Chow, Li Liu, Sergey N Zolov, Roderick Bronson, Muriel Davisson, Jason L Petersen, Yanling Zhang, Sujin Park, Jason E Duex, Daniel Goldowitz, Miriam H Meisler, Lois S Weisman

EMBO J. 2008 Dec 17; 27(24): 3221–3234. Published online 2008 Nov 27. doi: 10.1038/emboj.2008.248

PMCID:: PMC2600653

Abstract Article PDF–1.4M

Select item 310845919.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

Nicole Soranzo, Tim D Spector, Massimo Mangino, Brigitte Kühnel, Augusto Rendon, Alexander Teumer, Christina Willenborg, Benjamin Wright, Li Chen, Mingyao Li, Perttu Salo, Benjamin F Voight, Philippa Burns, Roman A Laskowski, Yali Xue, Stephan Menzel, David Altshuler, John R Bradley, Suzannah Bumpstead, Mary-Susan Burnett, Joseph Devaney, Angela Döring, Roberto Elosua, Stephen Epstein, Wendy Erber, Mario Falchi, Stephen F Garner, Mohammed J R Ghori, Alison H Goodall, Rhian Gwilliam, Hakon H Hakonarson, Alistair S Hall, Naomi Hammond, Christian Hengstenberg, Thomas Illig, Inke R König, Christopher W Knouff, Ruth McPherson, Olle Melander, Vincent Mooser, Matthias Nauck, Markku S Nieminen, Christopher J O’Donnell, Leena Peltonen, Simon C Potter, Holger Prokisch, Daniel J Rader, Catherine M Rice, Robert Roberts, Veikko Salomaa, Jennifer Sambrook, Stefan Schreiber, Heribert Schunkert, Stephen M Schwartz, Jovana Serbanovic-Canic, Juha Sinisalo, David S. Siscovick, Klaus Stark, Ida Surakka, Jonathan Stephens, John R Thompson, Uwe Völker, Henry Völzke, Nicholas A Watkins, George A Wells, H-Erich Wichmann, David A Van Heel, Chris Tyler-Smith, Swee Lay Thein, Sekar Kathiresan, Markus Perola, Muredach P Reilly, Alexandre F R Stewart, Jeanette Erdmann, Nilesh J Samani, Christa Meisinger, Andreas Greinacher, Panos Deloukas, Willem H Ouwehand, Christian Gieger

Nat Genet. Author manuscript; available in PMC 2011 Jun 6.

Published in final edited form as: Nat Genet. 2009 Nov; 41(11): 1182–1190. Published online 2009 Oct 11. doi: 10.1038/ng.467

PMCID:: PMC3108459

Abstract Article PDF–1.6M

Select item 499354120.

BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein

Sadiya Malik, Hiroko Saito, Miho Takaoka, Yoshio Miki, Akira Nakanishi

Cell Cycle. 2016; 15(16): 2145–2156. Published online 2016 Jul 19. doi: 10.1080/15384101.2016.1195531

PMCID:: PMC4993541

Abstract Article PDF–1.6M

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