Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Taylor Lindstrom"'
Autor:
Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky
Publikováno v:
Disease Models & Mechanisms, Vol 9, Iss 7, Pp 769-778 (2016)
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase leads to accumulation of glu
Externí odkaz:
https://doaj.org/article/f7b3e5e990b84865ae7b2fc4d4fb9cb0
Autor:
Emory Ryan, Tamanna Roshan Lal, Ellen Sidransky, Taylor Lindstrom, Alta M. Steward, Grisel Lopez, Somto Ukwuani, Raphael Schiffmann, Edythe Wiggs, Nahid Tayebi
Publikováno v:
Neurology
ObjectiveTo identify relevant efficacy parameters essential in designing clinical trials for brain-penetrant therapies for Gaucher disease, we evaluated cognitive function longitudinally in 34 patients with Gaucher disease type 3 seen at the NIH Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f3c45803f6bd51f058eda0dd2196466
https://doi.org/10.1212/wnl.0000000000008618
https://doi.org/10.1212/wnl.0000000000008618
Autor:
Esther E. Ryan, Ellen Sidransky, Edythe Wiggs, Gianina Monestime, Taylor Lindstrom, Jenny Kim, Eric Joshua Garcia, Nahid Tayebi, Alta M. Steward, Grisel Lopez
Publikováno v:
Molecular Genetics and Metabolism. 129:S60-S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de014fe2e5b31e4ee6ca764713dbe1c5
https://doi.org/10.1016/j.ymgme.2019.11.139
https://doi.org/10.1016/j.ymgme.2019.11.139
Autor:
Elma Aflaki, Taylor Lindstrom, Wendy Westbroek, Richard Grey, Brad Davidson, Wenduo Qi, Ellen Sidransky, Matthew Nguyen, Robert Burnett
Publikováno v:
The Biochemical journal. 476(2)
Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA1 gene, encoding the lysosome-resident glucocerebrosidase enzyme involved in the hydrolysis of glucosylceramide. The discovery of an association between mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3852e9e003604282fa383a61ab139a9
https://pubmed.ncbi.nlm.nih.gov/30578288
https://pubmed.ncbi.nlm.nih.gov/30578288
Autor:
Edythe Wiggs, Taylor Lindstrom, Grisel Lopez, Alta M. Steward, Somto Ukwuani, Tamanna Roshan Lal, Emory Ryan, Ellen Sidransky, Raphael Schiffmann, Nahid Tayebi
Publikováno v:
Molecular Genetics and Metabolism. 126:S139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a8228064f336e575ec0cb9ba2ab897c
https://doi.org/10.1016/j.ymgme.2018.12.358
https://doi.org/10.1016/j.ymgme.2018.12.358
Phenotype-based latent class clustering of GBA1 mutation carriers with and without Parkinson disease
Autor:
Niraj S. Trivedi, Alta M. Steward, Taylor Lindstrom, Laura M. Koehly, Jenny Kim, Nahid Tayebi, Grisel Lopez, Gianina Monestime, Ellen Sidransky
Publikováno v:
Molecular Genetics and Metabolism. 123:S136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c88a80c8f8b142ae03f951f7772e84e4
https://doi.org/10.1016/j.ymgme.2017.12.372
https://doi.org/10.1016/j.ymgme.2017.12.372