Zobrazeno 1 - 10
of 289
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
Autor:
Daniela Martino Roth, Darren M Hutt, Jiansong Tong, Marion Bouchecareilh, Ning Wang, Theo Seeley, Johanna F Dekkers, Jeffrey M Beekman, Dan Garza, Lawrence Drew, Eliezer Masliah, Richard I Morimoto, William E Balch
Publikováno v:
PLoS Biology, Vol 12, Iss 11, p e1001998 (2014)
Diseases of protein folding arise because of the inability of an altered peptide sequence to properly engage protein homeostasis components that direct protein folding and function. To identify global principles of misfolding disease pathology we exa
Externí odkaz:
https://doaj.org/article/a1806e3f4d0546f9a4f7421448cf23d1
Autor:
Judith A Coppinger, Darren M Hutt, Abbas Razvi, Atanas V Koulov, Sandra Pankow, John R Yates, William E Balch
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e37682 (2012)
Protein folding is the primary role of proteostasis network (PN) where chaperone interactions with client proteins determine the success or failure of the folding reaction in the cell. We now address how the Phe508 deletion in the NBD1 domain of the
Externí odkaz:
https://doaj.org/article/c58f48318e9d4af4b9a801a25a808a6e
Autor:
Douglas M Fowler, Atanas V Koulov, Christelle Alory-Jost, Michael S Marks, William E Balch, Jeffery W Kelly
Publikováno v:
PLoS Biology, Vol 4, Iss 1, p e6 (2006)
Amyloid is a generally insoluble, fibrous cross-beta sheet protein aggregate. The process of amyloidogenesis is associated with a variety of neurodegenerative diseases including Alzheimer, Parkinson, and Huntington disease. We report the discovery of
Externí odkaz:
https://doaj.org/article/753dcaaa8cb74e819c61f52270d806e1
Autor:
Nicole Y. Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L. Rodriguez-Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4217 (2024)
Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same NPC1 genotype, thus suggesting
Externí odkaz:
https://doaj.org/article/655a087fd72f40a59361c7ef1111416f
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
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
Publikováno v:
Communications Biology. 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d891f1b2869f407ecba7bf47951149fb
https://doi.org/10.1038/s42003-022-03457-y
https://doi.org/10.1038/s42003-022-03457-y
Publikováno v:
Communications Biology. 5
Although the impact of genome variation on the thermodynamic properties of function on the protein fold has been studied in vitro, it remains a challenge to assign these relationships across the entire polypeptide sequence in vivo. Using the Gaussian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5080d982d8c3318f94461341dc7e51f
https://doi.org/10.1038/s42003-022-03302-2
https://doi.org/10.1038/s42003-022-03302-2