Search Results - "Sands, Mark S."

Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models by Chandler, Randy J, Sands, Mark S, Venditti, Charles P

“…Currently, clinical gene therapy is experiencing a renaissance, with new products for clinical use approved in Europe and clinical trials for multiple diseases…”
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Treatment for Krabbe's disease: Finding the combination by Mikulka, Christina R., Sands, Mark S.

“…Globoid cell leukodystrophy (GLD) is an autosomal recessive neurodegenerative disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase…”
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Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target by Li, Yedda, Xu, Yue, Benitez, Bruno A., Nagree, Murtaza S., Dearborn, Joshua T., Jiang, Xuntian, Guzman, Miguel A., Woloszynek, Josh C., Giaramita, Alex, Yip, Bryan K., Elsbernd, Joseph, Babcock, Michael C., Lo, Melanie, Fowler, Stephen C., Wozniak, David F., Vogler, Carole A., Medin, Jeffrey A., Crawford, Brett E., Sands, Mark S.

“…Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a fatal demyelinating disorder caused by a deficiency in the lysosomal enzyme…”
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Clinical course of sly syndrome (mucopolysaccharidosis type VII) by Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S

“…Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe…”
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AAV Vector Integration Sites in Mouse Hepatocellular Carcinoma by Donsante, Anthony, Miller, Daniel G, Li, Yi, Vogler, Carole, Brunt, Elizabeth M, Russell, David W, Sands, Mark S

“…Adeno-associated viruses (AAV) are promising gene therapy vectors that have little or no acute toxicity. We show that normal mice and mice with…”
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Krabbe disease successfully treated via monotherapy of intrathecal gene therapy by Bradbury, Allison M, Bagel, Jessica H, Nguyen, Duc, Lykken, Erik A, Pesayco Salvador, Jill, Jiang, Xuntian, Swain, Gary P, Assenmacher, Charles A, Hendricks, Ian J, Miyadera, Keiko, Hess, Rebecka S, Ostrager, Arielle, ODonnell, Patricia, Sands, Mark S, Ory, Daniel S, Shelton, G Diane, Bongarzone, Ernesto R, Gray, Steven J, Vite, Charles H

“…Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable neurodegenerative disease caused by deficient activity of the hydrolytic enzyme…”
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Background Mutations in Parental Cells Account for Most of the Genetic Heterogeneity of Induced Pluripotent Stem Cells by Young, Margaret A., Larson, David E., Sun, Chiao-Wang, George, Daniel R., Ding, Li, Miller, Christopher A., Lin, Ling, Pawlik, Kevin M., Chen, Ken, Fan, Xian, Schmidt, Heather, Kalicki-Veizer, Joelle, Cook, Lisa L., Swift, Gary W., Demeter, Ryan T., Wendl, Michael C., Sands, Mark S., Mardis, Elaine R., Wilson, Richard K., Townes, Tim M., Ley, Timothy J.

“…To assess the genetic consequences of induced pluripotent stem cell (iPSC) reprogramming, we sequenced the genomes of ten murine iPSC clones derived from three…”
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Synergistic effects of treating the spinal cord and brain in CLN1 disease by Shyng, Charles, Nelvagal, Hemanth R., Dearborn, Joshua T., Tyynelä, Jaana, Schmidt, Robert E., Sands, Mark S., Cooper, Jonathan D.

“…Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is an inherited neurodegenerative storage disorder caused by a deficiency of the lysosomal…”
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Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis by Benitez, Bruno A., Sands, Mark S.

“…Mutations in the co- chaperone protein, CSPα, cause an autosomal dominant, adult-neuronal ceroid lipofuscinosis (AD-ANCL). The current understanding of CSPα…”
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Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model by Takahashi, Keigo, Eultgen, Elizabeth M, Wang, Sophie H, Rensing, Nicholas R, Nelvagal, Hemanth R, Dearborn, Joshua T, Danos, Olivier, Buss, Nicholas, Sands, Mark S, Wong, Michael, Cooper, Jonathan D

“…Although a disease-modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding of cellular…”
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The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis by Macauley, Shannon L, Pekny, Milos, Sands, Mark S

“…Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative disorder affecting the CNS during infancy. INCL is caused by mutations in the…”
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Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures by Dearborn, Joshua T., Nelvagal, Hemanth R., Rensing, Nicholas R., Takahashi, Keigo, Hughes, Stephanie M., Wishart, Thomas M., Cooper, Jonathan D., Wong, Michael, Sands, Mark S.

“…Cannabidiol (CBD) has gained attention as a therapeutic agent and is purported to have immunomodulatory, neuroprotective, and anti-seizure effects. Here, we…”
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Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy by Hawkins-Salsbury, Jacqueline A, Shea, Lauren, Jiang, Xuntian, Hunter, Daniel A, Guzman, A Miguel, Reddy, Adarsh S, Qin, Elizabeth Y, Li, Yedda, Gray, Steven J, Ory, Daniel S, Sands, Mark S

“…Globoid cell leukodystrophy (GLD, Krabbe disease) is a lysosomal storage disease (LSD) caused by a deficiency in galactocerebrosidase (GALC) activity. In the…”
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Cell-Type-Specific Profiling of Alternative Translation Identifies Regulated Protein Isoform Variation in the Mouse Brain by Sapkota, Darshan, Lake, Allison M., Yang, Wei, Yang, Chengran, Wesseling, Hendrik, Guise, Amanda, Uncu, Ceren, Dalal, Jasbir S., Kraft, Andrew W., Lee, Jin-Moo, Sands, Mark S., Steen, Judith A., Dougherty, Joseph D.

“…Alternative translation initiation and stop codon readthrough in a few well-studied cases have been shown to allow the same transcript to generate multiple…”
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Experimental Therapies in the Murine Model of Globoid Cell Leukodystrophy by Li, Yedda, BA, Sands, Mark S., PhD

“…Abstract Background Globoid cell leukodystrophy or Krabbe disease, is a rapidly progressive childhood lysosomal storage disorder caused by a deficiency in…”
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Embryonic vitamin D deficiency programs hematopoietic stem cells to induce type 2 diabetes by Oh, Jisu, Riek, Amy E., Bauerle, Kevin T., Dusso, Adriana, McNerney, Kyle P., Barve, Ruteja A., Darwech, Isra, Sprague, Jennifer E., Moynihan, Clare, Zhang, Rong M., Kutz, Greta, Wang, Ting, Xing, Xiaoyun, Li, Daofeng, Mrad, Marguerite, Wigge, Nicholas M., Castelblanco, Esmeralda, Collin, Alejandro, Bambouskova, Monika, Head, Richard D., Sands, Mark S., Bernal-Mizrachi, Carlos

“…Environmental factors may alter the fetal genome to cause metabolic diseases. It is unknown whether embryonic immune cell programming impacts the risk of type…”
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Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology by Sands, Mark S.

“…See related article in EMBO Molecular Medicine http://dx.doi.org/10.1002/emmm.201202301…”
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Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture by Hawkins-Salsbury, Jacqueline A., Parameswar, Archana R., Jiang, Xuntian, Schlesinger, Paul H., Bongarzone, Ernesto, Ory, Daniel S., Demchenko, Alexei V., Sands, Mark S.

“…Globoid cell leukodystrophy (GLD) is a neurological disease caused by deficiency of the lysosomal enzyme galactosylceramidase (GALC). In the absence of GALC,…”
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Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis by Benitez, Bruno A, Alvarado, David, Cai, Yefei, Mayo, Kevin, Chakraverty, Sumitra, Norton, Joanne, Morris, John C, Sands, Mark S, Goate, Alison, Cruchaga, Carlos

“…We performed whole-exome sequencing in two autopsy-confirmed cases and an elderly unaffected control from a multigenerational family with autosomal dominant…”
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Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor by Babcock, Michael C., Mikulka, Christina R., Wang, Bing, Chandriani, Sanjay, Chandra, Sundeep, Xu, Yue, Webster, Katherine, Feng, Ying, Nelvagal, Hemanth R., Giaramita, Alex, Yip, Bryan K., Lo, Melanie, Jiang, Xuntian, Chao, Qi, Woloszynek, Josh C., Shen, Yuqiao, Bhagwat, Shripad, Sands, Mark S., Crawford, Brett E.

“…Krabbe disease (KD) and metachromatic leukodystrophy (MLD) are caused by accumulation of the glycolipids galactosylceramide (GalCer) and sulfatide and their…”
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