Zobrazeno 1 - 10
of 288
pro vyhledávání: '"William E, Balch"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)
Abstract How information flow is coordinated for managing transit of 1/3 of the genome through endomembrane pathways by the coat complex II (COPII) system in response to human variation remains an enigma. By examining the interactome of the COPII cag
Externí odkaz:
https://doaj.org/article/eede0bfc6ba1466db0348d288cbe6364
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Genetic variation in human populations can result in the misfolding and aggregation of proteins, giving rise to systemic and neurodegenerative diseases that require management by proteostasis. Here, we define the role of GRP94, the endoplasm
Externí odkaz:
https://doaj.org/article/299e002e7fed40b09712708414fc86de
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-16 (2022)
Spatial covariance analysis shows how each residue in the critical fold region of chloride channel CFTR, defective in cystic fibrosis patients, contributes to CFTR’s export from the endoplasmic reticulum and function in the cell.
Externí odkaz:
https://doaj.org/article/f7be52b72e5e4bcdb93a893708a47ca4
Autor:
Chao Wang, Samantha M. Scott, Kanagaraj Subramanian, Salvatore Loguercio, Pei Zhao, Darren M. Hutt, Nicole Y. Farhat, Forbes D. Porter, William E. Balch
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
How epigenetics coordinate with genetics to impact protein fitness is unknown. Here, using a Variation Spatial Profiling strategy and machine learning, the authors map HDAC impact on a full set of Niemann pick C1 disease variants to quantitate an una
Externí odkaz:
https://doaj.org/article/cdd46cddd7bd45bbba719375caab04d4
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/a3fe6581e28946d8b497db43b6db1d80
Autor:
Thomas Stoeger, Rogan A. Grant, Alexandra C. McQuattie-Pimentel, Kishore R. Anekalla, Sophia S. Liu, Heliodoro Tejedor-Navarro, Benjamin D. Singer, Hiam Abdala-Valencia, Michael Schwake, Marie-Pier Tetreault, Harris Perlman, William E. Balch, Navdeep S. Chandel, Karen M. Ridge, Jacob I. Sznajder, Richard I. Morimoto, Alexander V. Misharin, G. R. Scott Budinger, Luis A. Nunes Amaral
Publikováno v:
Nature Aging. 2:1191-1206
Aging is among the most important risk factors for morbidity and mortality. To contribute toward a molecular understanding of aging, we analyzed age-resolved transcriptomic data from multiple studies. Here, we show that transcript length alone explai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0de44d4d63fdc5bb0ddd8d07ad5d272
https://doi.org/10.1038/s43587-022-00317-6
https://doi.org/10.1038/s43587-022-00317-6
Autor:
Nina H. Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M. Hutt, Samantha M. Scott, William E. Balch, Frederick R. Maxfield
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 4, Pp 695-708 (2017)
Niemann-Pick C (NPC) disease is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes. The large majority of NPC disease is caused by mutations in NPC1, a large polytopic membr
Externí odkaz:
https://doaj.org/article/0b6bea2e63ea4fa5ae88777be3306dfd
Insulin Biosynthetic Interaction Network Component, TMEM24, Facilitates Insulin Reserve Pool Release
Autor:
Anita Pottekat, Scott Becker, Kathryn R. Spencer, John R. Yates, III, Gerard Manning, Pamela Itkin-Ansari, William E. Balch
Publikováno v:
Cell Reports, Vol 4, Iss 5, Pp 921-930 (2013)
Insulin homeostasis in pancreatic β cells is now recognized as a critical element in the progression of obesity and type II diabetes (T2D). Proteins that interact with insulin to direct its sequential synthesis, folding, trafficking, and packaging i
Externí odkaz:
https://doaj.org/article/00e3f3761be044b295b2fca4466d8629
Genetic variation of alpha-1 antitrypsin (AAT) is responsible for alpha-1-antitrypsin deficiency (AATD) leading to gain-of-toxic aggregation in the liver and loss-of-function onneutrophilelastase (NE) inhibitory activity in the lung contributing toch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2544d3db07789222c126b97b5bd68ca
https://doi.org/10.1101/2022.03.04.483066
https://doi.org/10.1101/2022.03.04.483066
Understanding the fitness landscape of viral mutations is crucial for uncovering the evolutionary mechanisms contributing to pandemic behavior. Here, we apply a Gaussian process regression (GPR) based machine learning approach that generates spatial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed299032def30a72087b093b6e53f7cf
https://doi.org/10.1101/2022.01.07.475295
https://doi.org/10.1101/2022.01.07.475295