Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Sandra L Hofmann"'
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 2, Pp 346-359 (2004)
Infantile neuronal ceroid lipofuscinosis (INCL) is one of a group of fatal hereditary lysosomal storage disorders. Palmitoyl protein thioesterase 1 null mutant mice (PPT1−/−) now exist that accurately recapitulate many important disease features.
Externí odkaz:
https://doaj.org/article/14c7f92442c848c3aaee91466866f84b
Publikováno v:
eLife, Vol 2 (2013)
In fibroblasts, large Ca transients activate massive endocytosis (MEND) that involves membrane protein palmitoylation subsequent to mitochondrial permeability transition pore (PTP) openings. Here, we characterize this pathway in cardiac muscle. Myocy
Externí odkaz:
https://doaj.org/article/9ff487c1759e425a9fcbed3a88b83b6b
Autor:
Hemanth R. Nelvagal, Samantha L. Eaton, Sophie H. Wang, Elizabeth M. Eultgen, Keigo Takahashi, Steven Q. Le, Rachel Nesbitt, Joshua T. Dearborn, Nicholas Siano, Ana C. Puhl, Patricia I. Dickson, Gerard Thompson, Fraser Murdoch, Paul M. Brennan, Mark Gray, Stephen N. Greenhalgh, Peter Tennant, Rachael Gregson, Eddie Clutton, James Nixon, Chris Proudfoot, Stefano Guido, Simon G. Lillico, C. Bruce A. Whitelaw, Jui-Yun Lu, Sandra L. Hofmann, Sean Ekins, Mark S. Sands, Thomas M. Wishart, Jonathan D. Cooper
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 20 (2022)
CLN1 disease, also called infantile neuronal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a fatal neurodegenerative lysosomal storage disorder resulting from mutations in the CLN1 gene encoding the soluble lysosomal enzyme palmitoyl-pr
Externí odkaz:
https://doaj.org/article/fb7adb2cd6174d5a9c38555ece25def7
Autor:
Sandra L. Hofmann, John D. Minna, Ignacio I. Wistuba, Eugene P. Frenkel, Jaime Rodriguez-Canales, Hui Liu, Luc Girard, Jill E. Larsen, Ryan M. Carstens, Kenneth E. Huffman, Chunli Shao, Jui-Yun Lu, Hui Tian
Supplementary Figures S1-S5 and Supplementary Methods. Figure S1: Screening of a large number of NSCLC lines for sensitivity to siRNAs directed against 23 DHHC palmitoyltransferases. Figure S2: Membrane localization of DHHC5 in DHHC5 and DHHS mutant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a14431f6d2462aed52d13a6bfd01c6
https://doi.org/10.1158/1541-7786.22515022
https://doi.org/10.1158/1541-7786.22515022
Autor:
Sandra L. Hofmann, John D. Minna, Ignacio I. Wistuba, Eugene P. Frenkel, Jaime Rodriguez-Canales, Hui Liu, Luc Girard, Jill E. Larsen, Ryan M. Carstens, Kenneth E. Huffman, Chunli Shao, Jui-Yun Lu, Hui Tian
Tables S1-S3 Table S1. Non-small cell lung cancer cell lines used in the current study. Table S2. Clinicopathological characteristics for 194 primary patient samples (NSCLC). Table S3. siRNA used in screen (purchased from Qiagen) in 53 NSCLC lines an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f402e2febf59551fc67d9a7ab7f3995
https://doi.org/10.1158/1541-7786.22515019
https://doi.org/10.1158/1541-7786.22515019
Autor:
Nicholas C.J. Lee, Sean Yates, Siayareh Rambally, Ravindra Sarode, Ibrahim F. Ibrahim, Yu-Min Shen, Sandra L. Hofmann, Natalie Bavli
Publikováno v:
Blood. 140:2693-2694
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 4 (2016)
A 70-year-old African American female with a past medical history significant for chronic bilateral shoulder pain and reported sickle cell trait presented with acute-onset bilateral thoracolumbar pain radiating to her left arm. Two days after admissi
Externí odkaz:
https://doaj.org/article/b24ca4bf5b52402c8dd82cc9addccaf3
Publikováno v:
British Journal of Haematology. 196
Autor:
Hemanth R. Nelvagal, Samantha L. Eaton, Sophie H. Wang, Elizabeth M. Eultgen, Keigo Takahashi, Steven Q. Le, LaRachel Nesbitt, Joshua T. Dearborn, Ana C. Puhl, Patricia I. Dickson, Paul M. Brennan, Gerard Thompson, Sandra L. Hofmann, Sean Ekins, Mark S. Sands, Thomas M. Wishart, Jonathan D. Cooper
Publikováno v:
Molecular Genetics and Metabolism. 135:S88
Autor:
Bernard Tawfik, Nicole De Simone, Ravi Sarode, Sandra L. Hofmann, Chakri Gavva, Siayareh Rambally, Sean G. Yates, Manasa Reddy
Publikováno v:
Transfusion and Apheresis Science. 55:364-367
Thrombosis is known to occur in patients with rare inherited bleeding disorders, usually in the presence of a thrombotic risk factor such as surgery and/or factor replacement therapy, but sometimes spontaneously. We present the case of a 72-year-old