Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Autor: Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian

Publikováno v: Brain

Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to a highly regularly branched spherical structure that allows it to be perfused

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59293c4929b2bbb5d47f012bf06d7c1
https://doi.org/10.1093/brain/awac017

The 4th International Lafora Epilepsy Workshop: Shifting paradigms, paths to treatment, and hope for patients

Autor: Tracy R. McKnight, Tamar R. Grossman, Y. Paul Goldberg, Hal Landy, M. Kathryn Brewer, Matthew S. Gentry

Publikováno v: Epilepsy & Behavior. 90:284-286

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3d49095611e93d4af0d423b3740b0fd
https://doi.org/10.1016/j.yebeh.2018.11.014

Antisense oligonucleotides targeting

Autor: Ernesto, Canalis, Tamar R, Grossman, Michele, Carrer, Lauren, Schilling, Jungeun, Yu

Publikováno v: J Biol Chem

Notch receptors play critical roles in cell-fate decisions and in the regulation of skeletal development and bone remodeling. Gain–of–function NOTCH2 mutations can cause Hajdu-Cheney syndrome, an untreatable disease characterized by osteoporosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5926902044366e501c7ef332fb4eb511
https://pubmed.ncbi.nlm.nih.gov/31992595

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Autor: Carolyn A. Worby, José M. Serratosa, Berge A. Minassian, Roberto Michelucci, Pascual Sanz, Dustin D. Armstrong, Tamar R. Grossman, Frank Harris, Thomas D. Hurley, Antonio V. Delgado-Escueta, Zaid Afawi, Joan J. Guinovart, Matthew S. Gentry, Y. Paul Goldberg

Publikováno v: Epilepsy & Behavior, 103:Unsp 106839. Academic Press
Digital.CSIC. Repositorio Institucional del CSIC
instname
Epilepsy Behav

6 páginas, 3 figuras
Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93bda2941268d93248546ec05a186b35
https://doi.org/10.1016/j.yebeh.2019.106839

Cell-specific discrimination of desmosterol and desmosterol mimetics confers selective regulation of LXR and SREBP in macrophages

Autor: Sotirios Tsimikas, Jeffrey G. McDonald, Christopher K. Glass, John Bahadorani, Jason Roland, Evan D. Muse, Shan Yu, Ty D. Troutman, Chantle Edillor, Jenhan Tao, Katherine A. Ozeki, Tamar R. Grossman, Adam Henke, Nathanael J. Spann, Bonne M. Thompson, Jason S. Seidman, Matthew S. Tremblay

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, vol 115, iss 20

Significance The beneficial effects of LXR-pathway activation have long been appreciated, but clinical application of synthetic LXR ligands has been limited by coactivation of SREBP1c and consequent hypertriglyceridemia. Natural LXR ligands such as d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6388165ceb70362085cad0970067dd10
https://pubmed.ncbi.nlm.nih.gov/29712848