Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Marie S. Roberts"'
Autor:
Steven Q. Le, Shih-hsin Kan, Marie S. Roberts, Joshua T. Dearborn, Feng Wang, Shan Li, Elizabeth M. Snella, Jackie K. Jens, Bethann N. Valentine, Hemanth R. Nelvagal, Alexander Sorensen, Keerthana Chintalapati, Kevin Ohlemiller, Carole Vogler, Jonathan D. Cooper, Tsui-Fen Chou, N. Matthew Ellinwood, Jodi D. Smith, Mark S. Sands, Patricia I. Dickson
Recombinant human alpha-N-acetylglucosaminidase-insulin-like growth factor-2 (rhNAGLU-IGF2) is an investigational enzyme replacement therapy for Sanfilippo B, a lysosomal storage disease. Because recombinant human NAGLU (rhNAGLU) is poorly mannose 6-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc5b2a458a55f3ed2b94ffc54f9ef5e1
https://doi.org/10.1101/2021.08.06.455469
https://doi.org/10.1101/2021.08.06.455469
Autor:
Mark S. Sands, D. Martin Watterson, Andrew Wong, Marie S. Roberts, Joshua T. Dearborn, Charles Shyng, Shannon L. Macauley, David P. Augner, Jonathan D. Cooper, Stephen C. Fowler, Yewande Pearse
Publikováno v:
The Journal of Neuroscience. 34:13077-13082
Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative lysosomal storage disease (LSD) caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). Studies inPpt1−/−mice demonstrate that glial activation is centra
Autor:
Shannon L. Macauley, Francesca McSloy, Marie S. Roberts, Adarsh S. Reddy, Mark S. Sands, Jonathan D. Cooper, Andrew Wong
Publikováno v:
Annals of Neurology. 71:797-804
Objective: Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited childhood neurodegenerative disorder caused by the loss of palmitoyl protein thioesterase-1 (PPT1) activity. Affected children suffer from blindness, epilepsy, motor dysfuncti
Autor:
Louisa Wirthlin, Carole Vogler, Todd E. Meyerrose, Kevin K. Ohlemiller, Marie S. Roberts, Jan A. Nolta, Mark S. Sands
Publikováno v:
Stem Cells. 26:1713-1722
Bone marrow-derived mesenchymal stem cells (MSCs) are a promising platform for cell- and gene-based treatment of inherited and acquired disorders. We recently showed that human MSCs distribute widely in a murine xenotransplantation model. In the curr
Autor:
W.Anthony Frisella, Steve Walkley, Carole Vogler, Lynn H. O'Connor, Marie S. Roberts, Beth Levy, Mark S. Sands, Thomas M. Daly
Publikováno v:
Molecular Therapy. 3(3):351-358
Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by the lack of beta-glucuronidase (GUSB) activity. GUSB deficiency leads to the progressive accumulation of undegraded glycosaminoglycans (GAGs) in cells of most tissues,
Autor:
Brian J. Freeman, A. Alex Hofling, Marie S. Roberts, Andrew Nicholes, Mark S. Sands, Carole Vogler
Publikováno v:
Blood. 94:2142-2150
Bone marrow transplantation (BMT) is relatively effective for the treatment of lysosomal storage diseases. To better understand the contribution of specific hematopoietic lineages to the efficacy of BMT, we transplanted β-glucuronidase–positive mo
Autor:
Brian J. Freeman, Marie S. Roberts, Carole A. Vogler, Andrew Nicholes, A. Alex Hofling, Mark S. Sands
Publikováno v:
Blood. 94:2142-2150
Bone marrow transplantation (BMT) is relatively effective for the treatment of lysosomal storage diseases. To better understand the contribution of specific hematopoietic lineages to the efficacy of BMT, we transplanted β-glucuronidase–positive mo
Autor:
Shannon L. Macauley, Sarah A. Hohm, Jonathan D. Cooper, Marie S. Roberts, Mark S. Sands, Denis Yilmas, Andrew Wong
Infantile neuronal ceroid lipofuscinosis (INCL) is a profoundly neurodegenerative disease of children caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). There is currently no effective therapy for this invariably
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500d0b2b7df29e9a40f10a8b79ed892f
https://europepmc.org/articles/PMC4108163/
https://europepmc.org/articles/PMC4108163/
Publikováno v:
The Journal of biological chemistry. 284(43)
Lysosomal storage diseases (LSD) are metabolic disorders characterized by accumulation of undegraded material. The mucopolysaccharidoses (MPS) are LSDs defined by the storage of glycosaminoglycans. Previously, we hypothesized that cells affected with
Autor:
Marie S. Roberts, Mark S. Sands, Maureen P. Howell, Louis J. Muglia, David F. Wozniak, Benedict J. Kolber
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 105(33)
The amygdala is a key limbic area involved in fear responses and pavlovian conditioning with the potential to directly respond to endocrine signals associated with fear or stress. To gain insights into the molecular mechanisms and subregional specifi