Search Results - "LENK, M"

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis by 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

“…Phagocytosis of large extracellular particles such as apoptotic bodies requires delivery of the intracellular endosomal and lysosomal membranes to form…”
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Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome by 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.

“…Objective SCN8A encephalopathy is a developmental and epileptic encephalopathy (DEE) caused by de novo gain‐of‐function mutations of sodium channel Nav1.6 that…”
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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome by 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

“…Dravet syndrome is a severe form of intractable pediatric epilepsy with a high incidence of SUDEP: Sudden Unexpected Death in epilepsy. Cardiac arrhythmias are…”
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Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 by Ferguson, Cole J., Lenk, Guy M., Meisler, Miriam H.

“…Mutations affecting the conversion of PI3P to the signaling lipid PI(3,5)P2 result in spongiform degeneration of mouse brain and are associated with the human…”
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In vivo, Pikfyve generates PI(3,5)P₂, which serves as both a signaling lipid and the major precursor for PI5P by 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

“…Mutations that cause defects in levels of the signaling lipid phosphatidylinositol 3,5-bisphosphate [PI(3,5)P ₂] lead to profound neurodegeneration in mice…”
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The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation by 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

“…The metabolism of PI(3,5)P2 is regulated by the PIKfyve, VAC14 and FIG4 complex, mutations in which are associated with hypopigmentation in mice. These…”
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Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J by 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

“…CMT4J is a severe form of Charcot-Marie-Tooth neuropathy caused by mutation of the phosphoinositide phosphatase FIG4/SAC3. Affected individuals are compound…”
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CRISPR knockout screen implicates three genes in lysosome function by 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.

“…Defective biosynthesis of the phospholipid PI(3,5)P 2 underlies neurological disorders characterized by cytoplasmic accumulation of large lysosome-derived…”
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Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase by 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.

“…Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged…”
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Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms by Lenk, Guy M, Tromp, Gerard, Weinsheimer, Shantel, Gatalica, Zoran, Berguer, Ramon, Kuivaniemi, Helena

“…Abdominal aortic aneurysms are a common disorder with an incompletely understood etiology. We used Illumina and Affymetrix microarray platforms to generate…”
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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4 by 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.

“…Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in more than 30 genes…”
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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease by 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

“…In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of…”
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Store and neighborhood differences in retailer compliance with a local staple foods ordinance by Caspi, Caitlin E, Winkler, Megan R, Lenk, Kathleen M, Harnack, Lisa J, Erickson, Darin J, Laska, Melissa N

“…Policies to improve healthy food retail have been recognized as a potential means of reducing diet-related health disparities. The revised 2014 Minneapolis…”
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Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration by FERGUSON, C. J, LENK, G. M, JONES, J. M, GRANT, A. E, WINTERS, J. J, DOWLING, J. J, GIGER, R. J, MEISLER, Miriam H

“…FIG4 is a ubiquitously expressed phosphatase that, in complex with FAB1/PIKFYVE and VAC14, regulates the biosynthesis of the signaling lipid PI(3,5)P(2). Null…”
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Highly Sensitive Fetal Goat Tongue Cell Line for Detection and Isolation of Foot-and-Mouth Disease Virus by BREHM, K. E, FERRIS, N. P, LENK, M, RIEBE, R, HAAS, B

“…Article Usage Stats Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy by 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

“…Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although…”
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Susceptibility of koi × crucian carp and koi × goldfish hybrids to koi herpesvirus (KHV) and the development of KHV disease (KHVD) by Bergmann, S M, Sadowski, J, Kiełpiński, M, Bartłomiejczyk, M, Fichtner, D, Riebe, R, Lenk, M, Kempter, J

“…Hybrids of koi, Cyprinus carpio × crucian carp, Carassius carassius and koi × goldfish, Carassius auratus, proved to be susceptible to koi herpesvirus (KHV,…”
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A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants by 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

“…Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to…”
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Latent Classes of Young Adults Based on Use of Multiple Types of Tobacco and Nicotine Products by Erickson, Darin J., Lenk, Kathleen M., Forster, Jean L.

“…New tobacco and nicotine products such as snus, hookah, and electronic cigarettes have risen in popularity in recent years. Use of these products among young…”
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Validation of a KHV antibody enzyme‐linked immunosorbent assay (ELISA) by Bergmann, S M, Wang, Q, Zeng, W, Li, Y, Wang, Y, Matras, M, Reichert, M, Fichtner, D, Lenk, M, Morin, T, Olesen, N J, Skall, H F, Lee, P‐Y, Zheng, S, Monaghan, S, Reiche, S, Fuchs, W, Kotler, M, Way, K, Bräuer, G, Böttcher, K, Kappe, A, Kielpinska, J

“…Koi herpesvirus (KHV) causes KHV disease (KHVD). The virus is highly contagious in carp or koi and can induce a high mortality. Latency and, in some cases, a…”
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