Zobrazeno 1 - 10
of 189
pro vyhledávání: '"Pramod K Mistry"'
Autor:
Mohsen Basiri, Mohammad E Ghaffari, Jiapeng Ruan, Vagishwari Murugesan, Nathaniel Kleytman, Glenn Belinsky, Amir Akhavan, Andrew Lischuk, Lilu Guo, Katherine Klinger, Pramod K Mistry
Publikováno v:
eLife, Vol 12 (2023)
Background: A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the incidence of avascular osteonecrosis (AVN). However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not know
Externí odkaz:
https://doaj.org/article/bc28095fe0fd4a5d9a79ffe5c67417b5
Autor:
Chandra Sekhar Boddupalli, Shiny Nair, Glenn Belinsky, Joseph Gans, Erin Teeple, Tri-Hung Nguyen, Sameet Mehta, Lilu Guo, Martin L Kramer, Jiapeng Ruan, Honggge Wang, Matthew Davison, Dinesh Kumar, DJ Vidyadhara, Bailin Zhang, Katherine Klinger, Pramod K Mistry
Publikováno v:
eLife, Vol 11 (2022)
Background: Neuronopathic Gaucher disease (nGD) is a rare neurodegenerative disorder caused by biallelic mutations in GBA and buildup of glycosphingolipids in lysosomes. Neuronal injury and cell death are prominent pathological features; however, the
Externí odkaz:
https://doaj.org/article/ae7987b768304a36b201d016d7515a85
Autor:
Mylarappa Ningappa, Juhoon So, Joseph Glessner, Chethan Ashokkumar, Sarangarajan Ranganathan, Jun Min, Brandon W Higgs, Qing Sun, Kimberly Haberman, Lori Schmitt, Silvia Vilarinho, Pramod K Mistry, Gerard Vockley, Anil Dhawan, George K Gittes, Hakon Hakonarson, Ronald Jaffe, Shankar Subramaniam, Donghun Shin, Rakesh Sindhi
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138381 (2015)
Altered extrahepatic bile ducts, gut, and cardiovascular anomalies constitute the variable phenotype of biliary atresia (BA).To identify potential susceptibility loci, Caucasian children, normal (controls) and with BA (cases) at two US centers were c
Externí odkaz:
https://doaj.org/article/4cadd2774c32437fbb86d6068f14a00d
Autor:
Nathaniel Kleytman, Jiapeng Ruan, Audrey Ruan, Bailin Zhang, Vagishwari Murugesan, Haiqun Lin, Lilu Guo, Katherine Klinger, Pramod K. Mistry
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100798- (2021)
In Gaucher disease (GD), genetic deficiency of acid β-glucosidase leads to accumulation of its substrate glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph). Lipid-laden cells, most prominently seen as macrophages engorged with GlcCer and Glc
Externí odkaz:
https://doaj.org/article/fa3e32d84aef4e20acf65624cb4ce15d
Autor:
Guillermo I. Drelichman, Nicolas Fernández Escobar, Barbara C. Soberon, Nora F. Basack, Joaquin Frabasil, Andrea B. Schenone, Gabriel Aguilar, Maria S. Larroudé, James R. Knight, Dejian Zhao, Jiapeng Ruan, Pramod K. Mistry
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100820- (2021)
Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTE
Externí odkaz:
https://doaj.org/article/98b4f2892f6c4590959c830cdc82cef0
Autor:
Gregory A, Grabowski, Pramod K, Mistry
Publikováno v:
Molecular Genetics and Metabolism. 137:81-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a48a5b4f0723f995954f59e48c0f94
https://doi.org/10.1016/j.ymgme.2022.07.014
https://doi.org/10.1016/j.ymgme.2022.07.014
Publikováno v:
Molecular Genetics and Metabolism
Introduction The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway. Materials-methods Retrospective analysis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2918e5ef97c8cf7968ff4e4379bf1afa
https://doi.org/10.1016/j.ymgme.2021.08.004
https://doi.org/10.1016/j.ymgme.2021.08.004
Autor:
Sebastiaan J.M. Gaemers, Pramod K. Mistry, Joel Charrow, Theodore Marinakis, Meredith C. Foster, Timothy M. Cox, M. Judith Peterschmitt, Elena Lukina
Debilitating bone complications are common among patients with Gaucher disease type 1 (GD1). We analyzed changes in bone parameters among 393 GD1 patients treated with oral eliglustat for 4–8 years in 4 Sanofi Genzyme-sponsored clinical trials (Pha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20c5446ad43678bf72d667b32ead022f
Autor:
Pramod K. Mistry, Evgueniy Hadjiev, Sebastiaan J.M. Gaemers, Suma P. Shankar, Marwan Ghosn, Sarit Assouline, Andres Ortega, Heather Lau, Seymour Packman, Sumita Danda, Elena Lukina, M. Judith Peterschmitt, Hagit Baris Feldman, Milan Petakov, Hadhami Ben Turkia, Meredith C. Foster, Atul Mehta, Manisha Balwani
Publikováno v:
American Journal of Hematology
Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9d0cc53d5ab38cd4fb6f6b75864b4a
https://doi.org/10.1002/ajh.26276
https://doi.org/10.1002/ajh.26276
Autor:
Shiny Nair, Chandra Sekhar Boddupalli, Glenn Belinsky, Joseph Gans, Erin Teeple, Tri-Hung Nguyen, Sameet Mehta, Lilu Guo, Martin L Kramer, Jiapeng Ruan, Honggge Wang, Matthew Davison, Dinesh Kumar, DJ Vidyadhara, Bailin Zhang, Katherine Klinger, Pramod K Mistry
Publikováno v:
eLife. 11
Background:Neuronopathic Gaucher disease (nGD) is a rare neurodegenerative disorder caused by biallelic mutations in GBA and buildup of glycosphingolipids in lysosomes. Neuronal injury and cell death are prominent pathological features; however, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2506f6211f4d8894d664dad47f7366
https://doi.org/10.7554/elife.79830
https://doi.org/10.7554/elife.79830