Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Stacy L. Hrizo"'
Autor:
Andrew P. VanDemark, Stacy L. Hrizo, Samantha L. Eicher, Jules Kowalski, Tracey D. Myers, Megan R. Pfeifer, Kacie N. Riley, Dwight D. Koeberl, Michael J. Palladino
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 5 (2022)
Triosephosphate isomerase (TPI) deficiency (TPI Df) is an untreatable glycolytic enzymopathy that results in hemolytic anemia, progressive muscular impairment and irreversible brain damage. Although there is a ‘common’ mutation (TPIE105D), other
Externí odkaz:
https://doaj.org/article/6e587810fc2644ddac6db38219dae764
Autor:
Stacy L. Hrizo, Samantha L. Eicher, Tracey D. Myers, Ian McGrath, Andrew P.K. Wodrich, Hemanth Venkatesh, Daniel Manjooran, Sabrina Swoger, Kim Gagnon, Matthew Bruskin, Maria V. Lebedev, Sherry Zheng, Ana Vitantonio, Sungyoun Kim, Zachary J. Lamb, Andreas Vogt, Maura R.Z. Ruzhnikov, Michael J. Palladino
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105299- (2021)
Triosephosphate isomerase (TPI) deficiency (Df) is a rare recessive metabolic disorder that manifests as hemolytic anemia, locomotor impairment, and progressive neurodegeneration. Research suggests that TPI Df mutations, including the “common” TP
Externí odkaz:
https://doaj.org/article/40387faf9837432e845ed51feb7d8d99
Autor:
Stacy L. Hrizo, Isaac J. Fisher, Daniel R. Long, Joshua A. Hutton, Zhaohui Liu, Michael J. Palladino
Publikováno v:
Neurobiology of Disease, Vol 54, Iss , Pp 289-296 (2013)
Triose phosphate isomerase (TPI) is responsible for the interconversion of dihydroxyacetone phosphate to glyceraldehyde-3-phosphate in glycolysis. Point mutations in this gene are associated with a glycolytic enzymopathy called TPI deficiency. This s
Externí odkaz:
https://doaj.org/article/9fcd43daaddf4edda99a17be901b98aa
Autor:
Stacy L. Hrizo, Michael J. Palladino
Publikováno v:
Neurobiology of Disease, Vol 40, Iss 3, Pp 676-683 (2010)
Triosephosphate isomerase (TPI) deficiency is a severe glycolytic enzymopathy that causes progressive locomotor impairment and neurodegeneration, susceptibility to infection, and premature death. The recessive missense TPIsugarkill mutation in Drosop
Externí odkaz:
https://doaj.org/article/2697f135a5f54667b3149a7e4ecb6547
Autor:
Michael J. Palladino, Stacy L. Hrizo, Tracey D. Myers, E. Michael Meyer, Samantha L. Eicher, Laura L. Vollmer, Andreas Vogt
Publikováno v:
SLAS Discov
Triose phosphate isomerase deficiency (TPI Df) is an untreatable, childhood-onset glycolytic enzymopathy. Patients typically present with frequent infections, anemia, and muscle weakness that quickly progresses with severe neuromusclar dysfunction re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78b9d7cf55833eb02dbe04ac409cf5b
https://doi.org/10.1177/24725552211018198
https://doi.org/10.1177/24725552211018198
Publikováno v:
Biochemistry and Molecular Biology Education. 46:445-452
Exposure of organisms to high temperatures and various chemical and physical stressors can cause protein misfolding and aggregation. In turn, this can disrupt the functions of proteins, threatening both development and homeostasis. To overcome this,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::547b7a7234c0f0af1b28ada680775af5
https://doi.org/10.1002/bmb.21163
https://doi.org/10.1002/bmb.21163
Autor:
Carol A. Barnes, Stacy L. Hrizo, Kathryn Skolnick, Isaac Fisher, Kortnee Koziara, Lily Jean Schlosser
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ffc7ffb2fd495ef45883ecd95fd1c28
https://doi.org/10.1096/fasebj.2019.33.1_supplement.463.10
https://doi.org/10.1096/fasebj.2019.33.1_supplement.463.10
Utilizing live‐cell imaging in Drosophila cells to identify stressors that induce protein misfolding
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c32dbceccb26a46b712e3666402d872
https://doi.org/10.1096/fasebj.2019.33.1_supplement.463.2
https://doi.org/10.1096/fasebj.2019.33.1_supplement.463.2
Autor:
Elisa Fermo, Michael J. Palladino, Kristen R. Richards, Paola Bianchi, Luca Tortorolo, Tien Chien Chang, Jerry Vockley, Samantha L. Eicher, Zackery J. Barile, Grace Savon, Stacy L. Hrizo, Bartholomew P. Roland, Bianca Maria Ricerca, Andrew P. VanDemark
Publikováno v:
Biochim Biophys Acta Mol Basis Dis
Mutations in the gene triosephosphate isomerase (TPI) lead to a severe multisystem condition that is characterized by hemolytic anemia, a weakened immune system, and significant neurologic symptoms such as seizures, distal neuropathy, and intellectua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a35e84e19c12344ce82117ef9c39b253
http://hdl.handle.net/10807/170052
http://hdl.handle.net/10807/170052
Autor:
Tracey D. Myers, Hemanth Venkatesh, Andrew P.K. Wodrich, Sherry Zheng, Michael J. Palladino, Ana Vitantonio, Sungyoun Kim, Daniel T. Manjooran, Samantha L. Eicher, Kim Gagnon, Ian McGrath, Maria V. Lebedev, Maura R.Z. Ruzhnikov, Zachary J. Lamb, Sabrina Swoger, Stacy L. Hrizo, Matthew Bruskin, Andreas Vogt
Publikováno v:
Neurobiology of disease
Neurobiology of Disease, Vol 152, Iss, Pp 105299-(2021)
Neurobiology of Disease, Vol 152, Iss, Pp 105299-(2021)
Triosephosphate isomerase (TPI) deficiency (Df) is a rare recessive metabolic disorder that manifests as hemolytic anemia, locomotor impairment, and progressive neurodegeneration. Research suggests that TPI Df mutations, including the “common” TP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b00eb62d992842d29282402417175bd
http://europepmc.org/articles/PMC7993632
http://europepmc.org/articles/PMC7993632