Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Elisia M. Clark"'
Autor:
Hong Lin, Jordi Magrane, Elisia M. Clark, Sarah M. Halawani, Nathan Warren, Amy Rattelle, David R. Lynch
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 12, Pp 1529-1538 (2017)
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with progressive ataxia that affects both the peripheral and central nervous system (CNS). While later CNS neuropathology involves loss of large principal neurons and gluta
Externí odkaz:
https://doaj.org/article/940a8e6b41d947a5b3b112e72e8b3419
Autor:
Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M. Clark, Yi Na Dong, Sarah M. Halawani, David R. Lynch
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 11, Pp 1343-1352 (2017)
Friedreich ataxia (FRDA), the most common recessive inherited ataxia, results from deficiency of frataxin, a small mitochondrial protein crucial for iron-sulphur cluster formation and ATP production. Frataxin deficiency is associated with mitochondri
Externí odkaz:
https://doaj.org/article/d79fcb553b9b47c5bc781c43cb423749
Autor:
Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M. Clark, Yi Na Dong, Sarah M. Halawani, David R. Lynch
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 1 (2018)
Externí odkaz:
https://doaj.org/article/97cbd0599aa94169adb7d5b8df7ca5e5
Autor:
D. Kacy Cullen, H. Isaac Chen, Laura A. Struzyna, John C. O'Donnell, Elisia M. Clark, John E. Duda
Publikováno v:
Current Opinion in Biomedical Engineering. 14:75-83
Although traditional small animal and cell culture models of neurodegenerative disease have been valuable in foundational discoveries, their inherent imprecision may have biased our understanding of etiology in humans and hindered translation of ther
Publikováno v:
Pharmacology Research & Perspectives
Pharmacology Research & Perspectives, Vol 9, Iss 3, Pp n/a-n/a (2021)
Pharmacology Research & Perspectives, Vol 9, Iss 3, Pp n/a-n/a (2021)
Friedreich ataxia is an autosomal recessive, neurodegenerative disease characterized by the deficiency of the iron‐sulfur cluster assembly protein frataxin. Loss of this protein impairs mitochondrial function. Mitochondria alter their morphology in
Publikováno v:
Annals of Clinical and Translational Neurology. 6:812-816
Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation. In this work, w
Autor:
Defne A. Amado, Alice Chen-Plotkin, Yunji Seo, Rakshita A. Charan, Maria Diaz-Ortiz, Rebecca Zack, Travis L. Unger, Johanna I. Busch, Elisia M. Clark
Publikováno v:
SSRN Electronic Journal.
Frontotemporal lobar degeneration (FTLD) is a leading cause of early-onset dementia, but the pathological mechanisms underlying this disorder are not well understood. Common variants in the gene encoding Transmembrane Protein 106B (TMEM106B) increase
Autor:
Anna Stepanova, David A. Lynch, Amy Rattelle, Yi Na Dong, Hong Lin, Jordi Magrané, Alexander Galkin, Elisia M. Clark, Sarah M. Halawani
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 11, Pp 1343-1352 (2017)
Disease Models & Mechanisms
Disease Models & Mechanisms
Friedreich ataxia (FRDA), the most common recessive inherited ataxia, results from deficiency of frataxin, a small mitochondrial protein crucial for iron-sulphur cluster formation and ATP production. Frataxin deficiency is associated with mitochondri
Publikováno v:
Hum Mol Genet
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by the deficiency of frataxin, a mitochondrial protein crucial for iron-sulfur cluster biogenesis and adenosine triphosphate (ATP) production. Currently, there is no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7732a0564e4965fbbe149ebe8713666
https://europepmc.org/articles/PMC6494971/
https://europepmc.org/articles/PMC6494971/
Autor:
Elisia M. Clark, Yi Na Dong, Elizabeth Mercado-Ayon, Mattieu Zhai, Emily E. McMillan, Nathan Warren, Joseph T. Johnson, Hong Lin, David A. Lynch, Amy Salovin
Publikováno v:
Neuronal Signaling
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease with developmental features caused by a genetic deficiency of frataxin, a small, nuclear-encoded mitochondrial protein. Frataxin deficiency leads to impairment of iron–sulphur clus