Zobrazeno 1 - 10
of 128
pro vyhledávání: '"Carole, Vogler"'
Autor:
Timothy J. Ley, Carole Vogler, Stephanie Smith, Randy J. Chandler, Xuntian Jiang, Lauren Shea, Charles P. Venditti, Sai Mukund Ramakrishnan, Christopher A. Miller, Miguel A. Guzman, Mark S. Sands, Daniel S. Ory, Yedda Li
Publikováno v:
Mol Ther
Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a demyelinating disease caused by the deficiency of the lysosomal enzyme galactosylceramidase (GALC) and the progressive accumulation of the toxic metabolite psychosine. We showed previou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbb2ea164ffb081acaa3693f9437edc
https://doi.org/10.1016/j.ymthe.2020.12.031
https://doi.org/10.1016/j.ymthe.2020.12.031
Autor:
William S. Sly, Carole Vogler
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 5, Pp 655-657 (2013)
Externí odkaz:
https://doaj.org/article/b61b5ee7dd574c4ab0e7d393455ec1a1
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:
Megan Griffey, Ellen Bible, Carole Vogler, Beth Levy, Praveena Gupta, Jonathan Cooper, Mark S Sands
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 2, Pp 360-369 (2004)
Infantile neuronal ceroid lipofuscinosis (INCL) is the earliest onset form of a class of inherited neurodegenerative disease called Batten disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). Autofl
Externí odkaz:
https://doaj.org/article/a8a45b9c29a041fbad03eb3bfb66ed81
Influence of maternal obesity and metabolic and vascular mediators in twin-twin transfusion syndrome
Autor:
Francesca Nardi, Philip Fitchev, Sarah E. Starnes, Carole Vogler, Susan E. Crawford, Chi-Hsung Wang, Beth A. Plunkett, Constance Thorpe
Publikováno v:
Reproductive Biology. 19:165-172
Obesity is a risk factor for complications in singleton and twin pregnancies; however, there are limited data regarding maternal body mass index (BMI) in the setting of twin-twin transfusion syndrome (TTTS). We hypothesized that increased BMI in TTTS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec9f3d7462cc61f8746dfab0a345c971
https://doi.org/10.1016/j.repbio.2019.05.002
https://doi.org/10.1016/j.repbio.2019.05.002
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e64647 (2014)
Globoid-cell Leukodystrophy (GLD; Krabbe's disease) is a rapidly progressing inherited demyelinating disease caused by a deficiency of the lysosomal enzyme Galactosylceramidase (GALC). Deficiency of GALC leads to altered catabolism of galactosylceram
Externí odkaz:
https://doaj.org/article/b6d54ba5f817454e85535cf206aefb9f
Autor:
Coy D Heldermon, Anne K Hennig, Kevin K Ohlemiller, Judith M Ogilvie, Erik D Herzog, Annalisa Breidenbach, Carole Vogler, David F Wozniak, Mark S Sands
Publikováno v:
PLoS ONE, Vol 2, Iss 8, p e772 (2007)
Mucopolysaccharidosis (MPS) IIIB (Sanfilippo Syndrome type B) is caused by a deficiency in the lysosomal enzyme N-acetyl-glucosaminidase (Naglu). Children with MPS IIIB develop disturbances of sleep, activity levels, coordination, vision, hearing, an
Externí odkaz:
https://doaj.org/article/d5e720ff5f7c4bf9810d566bd4f57c79
Autor:
Yue Xu, Jeffrey A. Medin, Stephen C. Fowler, Joseph Elsbernd, Murtaza S. Nagree, Xuntian Jiang, David F. Wozniak, Michael C. Babcock, Melanie Lo, Joshua T. Dearborn, Yedda Li, Bryan K. Yip, Miguel A. Guzman, Carole Vogler, Alex Giaramita, Josh C. Woloszynek, Brett E. Crawford, Mark S. Sands, Bruno A. Benitez
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 116(40)
Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a fatal demyelinating disorder caused by a deficiency in the lysosomal enzyme galactosylceramidase (GALC). GALC deficiency leads to the accumulation of the cytotoxic glycolipid, galactosy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e73124ef147f50e5e65c703c6f6e276
https://pubmed.ncbi.nlm.nih.gov/31527255
https://pubmed.ncbi.nlm.nih.gov/31527255
Autor:
David D. Greenberg, Jacqueline R. Batanian, Kristen Bernreuter, Carole Vogler, Vasiliki Grammatopoulou, Gabor Oroszi, Jamie L. Odem, Scott R. Lauer
Publikováno v:
Human Pathology. 44:145-150
Low-grade fibromyxoid sarcoma (previously known as Evans tumor) is a rare soft tissue neoplasm characterized by a deceptively bland appearance despite the potential for late metastasis or recurrence. We describe a 13-year-old patient with a popliteal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b278faad7e50caad8a04b675bfbbcdca
https://doi.org/10.1016/j.humpath.2012.07.021
https://doi.org/10.1016/j.humpath.2012.07.021
Autor:
Carole Vogler, Elizabeth Y. Qin, Mark S. Sands, Jacqueline A. Hawkins-Salsbury, Adarsh S. Reddy
Publikováno v:
Experimental Neurology. 237:444-452
Globoid cell leukodystrophy (GLD, Krabbe Disease) is a lysosomal storage disease, resulting from the genetic deficiency of galactosylceramidase (GALC). This disease is marked by accumulation of the cytotoxic lipid psychosine (Psy). Psychosine is know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddaa0a9ca90a96ca57cffce2aab6928a
https://doi.org/10.1016/j.expneurol.2012.07.013
https://doi.org/10.1016/j.expneurol.2012.07.013