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
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
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
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
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
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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Journal Article
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
Vaccari, Ilaria, Carbone, Antonietta, Previtali, Stefano Carlo, Mironova, Yevgeniya A, Alberizzi, Valeria, Noseda, Roberta, Rivellini, Cristina, Bianchi, Francesca, Del Carro, Ubaldo, D'Antonio, Maurizio, Lenk, Guy M, Wrabetz, Lawrence, Giger, Roman J, Meisler, Miriam H, Bolino, Alessandra
Published in Human molecular genetics (15.01.2015)
Published in Human molecular genetics (15.01.2015)
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Journal Article
A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants
Meyer-Schuman, Rebecca, Cale, Allison R., Pierluissi, Jennifer A., Jonatzke, Kira E., Park, Young N., Lenk, Guy M., Oprescu, Stephanie N., Grachtchouk, Marina A., Dlugosz, Andrzej A., Beg, Asim A., Meisler, Miriam H., Antonellis, Anthony
Published in HGG advances (18.07.2024)
Published in HGG advances (18.07.2024)
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Journal Article
PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms
Mironova, Yevgeniya A, Lenk, Guy M, Lin, Jing-Ping, Lee, Seung Joon, Twiss, Jeffery L, Vaccari, Ilaria, Bolino, Alessandra, Havton, Leif A, Min, Sang H, Abrams, Charles S, Shrager, Peter, Meisler, Miriam H, Giger, Roman J
Published in eLife (23.03.2016)
Published in eLife (23.03.2016)
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Journal Article
Binding Sites for ETS Family of Transcription Factors Dominate the Promoter Regions of Differentially Expressed Genes in Abdominal Aortic Aneurysms
Nischan, Jennifer, Gatalica, Zoran, Curtis, Mindee, Lenk, Guy M, Tromp, Gerard, Kuivaniemi, Helena
Published in Circulation. Cardiovascular genetics (01.12.2009)
Published in Circulation. Cardiovascular genetics (01.12.2009)
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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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