Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nima Moaven"'
Autor:
Steven A. Rogers, Wei Zheng, Wendy Westbroek, Frank J. Schoenen, Ellen Sidransky, Barbara K. Stubblefield, Patricia Sullivan, Zayd M. Khaliq, Samarjit Patnaik, Nima Moaven, Elma Aflaki, Juan J. Marugan, David S. Goldstein, Rohini Sidhu, Hideji Fujiwara, Daniel S. Ory, Grisel Lopez, Daniel K. Borger
Publikováno v:
Journal of Neuroscience. 36:7441-7452
Among the known genetic risk factors for Parkinson disease, mutations in GBA1 , the gene responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic link has directed attention to the role of the lysosome in the pathogen
Autor:
Juan J. Marugan, Wendy Westbroek, Ellen Sidransky, Emerson Maniwang, Grisel Lopez, Elma Aflaki, Nima Moaven, Samarjit Patnaik, Jae Jin Chae, Daniel K. Borger, Ashley N. Gonzalez
Publikováno v:
Aging Cell
Summary Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylcer‐amide macrophages, the accumulation of glucosylceramide in lysosomes and the secretion of inflammatory cytokines. How
Autor:
Wendy Westbroek, Ellen Sidransky, Nima Moaven, Yu-Chi Chen, Scott E. Martin, Yan Li, Arash Velayati, Maria Luiza Saraiva-Pereira, Marina Siebert
Publikováno v:
RNA Biology. 11:1291-1300
Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase. Although it is a monogenic disease, there is vast phenotypic heterogeneity, even among patients with the same genotype. MicroRNAs (miRNAs) are s
Autor:
Ehud Goldin, Thai Leong Yap, Wendy Westbroek, James M. Gruschus, Arash Velayati, Jennifer C. Lee, Nima Moaven, Ellen Sidransky
Publikováno v:
Journal of Biological Chemistry. 286:28080-28088
The presynaptic protein α-synuclein (α-syn), particularly in its amyloid form, is widely recognized for its involvement in Parkinson disease (PD). Recent genetic studies reveal that mutations in the gene GBA are the most widespread genetic risk fac
Publikováno v:
Rare Diseases ISBN: 9789401792134
Mendelian disorders are diseases which occur due to a mutation in the DNA sequence of a single gene. However, as we learn more about these inherited diseases, it is clear that there can be a vast spectrum of associated phenotypes. Gaucher disease is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::567093b7e859df8afdf43addc21d7170
https://doi.org/10.1007/978-94-017-9214-1_6
https://doi.org/10.1007/978-94-017-9214-1_6
Autor:
Noel Southall, Emerson Maniwang, Amalia Dutra, Ehud Goldin, Wei-Wei Zheng, Samarjit Patnaik, Grisel Lopez, Nima Moaven, Elma Aflaki, Juan J. Marugan, Ellen Sidransky, Nahid Tayebi, Barbara K. Stubblefield
Publikováno v:
Science translational medicine. 6(240)
Gaucher disease is caused by an inherited deficiency of glucocerebrosidase that manifests with storage of glycolipids in lysosomes, particularly in macrophages. Available cell lines modeling Gaucher disease do not demonstrate lysosomal storage of gly
Autor:
Daniel S. Ory, Hideji Fujiwara, Samarjit Patnaik, Elma Aflaki, Nima Moaven, Steven A. Rogers, Juan J. Marugan, Ellen Sidransky, Daniel K. Borger, Grisel Lopez, Wendy Westbroek, David S. Goldstein, Patricia Sullivan, Barbara K. Stubblefield
Publikováno v:
Molecular Genetics and Metabolism. 117:S15
Autor:
Ehud Goldin, Barbara K. Stubblefield, Edwin H. Kolodny, Nidhi Gupta, Arash Velayati, Ellen Sidransky, Nahid Tayebi, Jae H. Choi, Ozlem Goker-Alpan, John DePaolo, Nima Moaven, Wendy Westbroek
Publikováno v:
Human mutation. 32(11)
Lysosomal integral membrane protein type 2 (LIMP-2) is responsible for proper sorting and lysosomal targeting of glucocerebrosidase, the enzyme deficient in Gaucher disease (GD). Mutations in the gene for LIMP-2, SCARB2, are implicated in inherited f
Publikováno v:
Molecular Genetics and Metabolism. 111:S17
computerized tomography (HRCT) mainly in type I GD adults. So, this study will determine the clinical spectrum of severity of lung involvement in Egyptian children mainly type 3 GD, the radiological changes,assess clinical significance of these findi
Autor:
Maria Luiza Saraiva-Pereira, Yu-Chi Chen, Ellen Sidransky, Wendy Westbroek, Nima Moaven, Scott E. Martin, Marina Siebert, Yan Li
Publikováno v:
Molecular Genetics and Metabolism. 111:S98