Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome
Auerbach, David S, Jones, Julie, Clawson, Brittany C, Offord, James, Lenk, Guy M, Ogiwara, Ikuo, Yamakawa, Kazuhiro, Meisler, Miriam H, Parent, Jack M, Isom, Lori L
Published in PloS one (14.10.2013)
Published in PloS one (14.10.2013)
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Journal Article
A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis
Samie, Mohammad, Wang, Xiang, Zhang, Xiaoli, Goschka, Andrew, Li, Xinran, Cheng, Xiping, Gregg, Evan, Azar, Marlene, Zhuo, Yue, Garrity, Abigail G., Gao, Qiong, Slaugenhaupt, Susan, Pickel, Jim, Zolov, Sergey N., Weisman, Lois S., Lenk, Guy M., Titus, Steve, Bryant-Genevier, Marthe, Southall, Noel, Juan, Marugan, Ferrer, Marc, Xu, Haoxing
Published in Developmental cell (16.09.2013)
Published in Developmental cell (16.09.2013)
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Journal Article
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome
Lenk, Guy M., Jafar‐Nejad, Paymaan, Hill, Sophie F., Huffman, Lucas D., Smolen, Corrine E., Wagnon, Jacy L., Petit, Hayley, Yu, Wenxi, Ziobro, Julie, Bhatia, Kritika, Parent, Jack, Giger, Roman J., Rigo, Frank, Meisler, Miriam H.
Published in Annals of neurology (01.03.2020)
Published in Annals of neurology (01.03.2020)
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Journal Article
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
Ferguson, Cole J., Lenk, Guy M., Meisler, Miriam H.
Published in Human molecular genetics (15.12.2009)
Published in Human molecular genetics (15.12.2009)
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Journal Article
Lysosome enlargement during inhibition of the lipid kinase PIKfyve proceeds through lysosome coalescence
Choy, Christopher H, Saffi, Golam, Gray, Matthew A, Wallace, Callen, Dayam, Roya M, Ou, Zhen-Yi A, Lenk, Guy, Puertollano, Rosa, Watkins, Simon C, Botelho, Roberto J
Published in Journal of cell science (15.05.2018)
Published in Journal of cell science (15.05.2018)
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Journal Article
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants
Cao, Xu, Lenk, Guy M, Mikusevic, Vedrana, Mindell, Joseph A, Meisler, Miriam H
Published in PLoS genetics (26.06.2023)
Published in PLoS genetics (26.06.2023)
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Journal Article
In vivo, Pikfyve generates PI(3,5)P₂, which serves as both a signaling lipid and the major precursor for PI5P
Zolov, Sergey N, Bridges, Dave, Zhang, Yanling, Lee, Wei-Wei, Riehle, Ellen, Verma, Rakesh, Lenk, Guy M, Converso-Baran, Kimber, Weide, Thomas, Albin, Roger L, Saltiel, Alan R, Meisler, Miriam H, Russell, Mark W, Weisman, Lois S
Published in Proceedings of the National Academy of Sciences - PNAS (23.10.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (23.10.2012)
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Journal Article
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
Campeau, Philippe M., Lenk, Guy M., Lu, James T., Bae, Yangjin, Burrage, Lindsay, Turnpenny, Peter, Román Corona-Rivera, Jorge, Morandi, Lucia, Mora, Marina, Reutter, Heiko, Vulto-van Silfhout, Anneke T., Faivre, Laurence, Haan, Eric, Gibbs, Richard A., Meisler, Miriam H., Lee, Brendan H.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model
Presa, Maximiliano, Bailey, Rachel M, Davis, Crystal, Murphy, Tara, Cook, Jenn, Walls, Randy, Wilpan, Hannah, Bogdanik, Laurent, Lenk, Guy M, Burgess, Robert W, Gray, Steven J, Lutz, Cathleen
Published in The Journal of clinical investigation (01.06.2021)
Published in The Journal of clinical investigation (01.06.2021)
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Journal Article
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J
Lenk, Guy M, Ferguson, Cole J, Chow, Clement Y, Jin, Natsuko, Jones, Julie M, Grant, Adrienne E, Zolov, Sergey N, Winters, Jesse J, Giger, Roman J, Dowling, James J, Weisman, Lois S, Meisler, Miriam H
Published in PLoS genetics (01.06.2011)
Published in PLoS genetics (01.06.2011)
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Journal Article
The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation
Bissig, Christin, Croisé, Pauline, Heiligenstein, Xavier, Hurbain, Ilse, Lenk, Guy M, Kaufman, Emily, Sannerud, Ragna, Annaert, Wim, Meisler, Miriam H, Weisman, Lois S, Raposo, Graça, van Niel, Guillaume
Published in Journal of cell science (28.02.2019)
Published in Journal of cell science (28.02.2019)
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Journal Article
CRISPR knockout screen implicates three genes in lysosome function
Lenk, Guy M., Park, Young N., Lemons, Rosemary, Flynn, Emma, Plank, Margaret, Frei, Christen M., Davis, Michael J., Gregorka, Brian, Swanson, Joel A., Meisler, Miriam H., Kitzman, Jacob O.
Published in Scientific reports (03.07.2019)
Published in Scientific reports (03.07.2019)
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Journal Article
Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
Chow, Clement Y., Landers, John E., Bergren, Sarah K., Sapp, Peter C., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., Meisler, Miriam H.
Published in American journal of human genetics (09.01.2009)
Published in American journal of human genetics (09.01.2009)
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Journal Article
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
Accogli, Andrea, Park, Young N., Lenk, Guy M., Severino, Mariasavina, Scala, Marcello, Denecke, Jonas, Hempel, Maja, Lessel, Davor, Kortüm, Fanny, Salpietro, Vincenzo, de Marco, Patrizia, Guerrisi, Sara, Torella, Annalaura, Nigro, Vincenzo, Srour, Myriam, Turro, Ernest, Labarque, Veerle, Freson, Kathleen, Piatelli, Gianluca, Capra, Valeria, Kitzman, Jacob O., Meisler, Miriam H.
Published in Genetics in medicine (01.05.2024)
Published in Genetics in medicine (01.05.2024)
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Journal Article
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
Nicholson, Garth, Lenk, Guy M., Reddel, Stephen W., Grant, Adrienne E., Towne, Charles F., Ferguson, Cole J., Simpson, Ericka, Scheuerle, Angela, Yasick, Michelle, Hoffman, Stuart, Blouin, Randall, Brandt, Carla, Coppola, Giovanni, Biesecker, Leslie G., Batish, Sat D., Meisler, Miriam H.
Published in Brain (London, England : 1878) (01.07.2011)
Published in Brain (London, England : 1878) (01.07.2011)
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Journal Article
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Lenk, Guy M., Szymanska, Krystyna, Debska-Vielhaber, Grazyna, Rydzanicz, Malgorzata, Walczak, Anna, Bekiesinska-Figatowska, Monika, Vielhaber, Stefan, Hallmann, Kerstin, Stawinski, Piotr, Buehring, Sonja, Hsu, David A., Kunz, Wolfram S., Meisler, Miriam H., Ploski, Rafal
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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