Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marissa Z. McMackin"'
Autor:
Marissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, Gino A Cortopassi
Publikováno v:
PLoS ONE, Vol 14, Iss 10, p e0223209 (2019)
Friedreich's ataxia (FA) is a neurodegenerative disease with no approved therapy that is the result of frataxin deficiency. The identification of human FA blood biomarkers related to disease severity and neuro-pathomechanism could support clinical tr
Externí odkaz:
https://doaj.org/article/cfc0a2f55fe843d7ae56bd41d17e2c48
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0151026 (2016)
An inherited deficiency in the frataxin protein causes neurodegeneration of the dorsal root ganglia and Friedreich's ataxia (FA). Frataxin deficiency leads to oxidative stress and inflammatory changes in cell and animal models; however, the cause of
Externí odkaz:
https://doaj.org/article/4281eca0f9df481a8a2b660caaa837f9
Publikováno v:
Neurobiology of Disease, Vol 100, Iss, Pp 30-38 (2017)
Parkinson's disease (PD) is a neurodegenerative condition caused by age-related death of dopaminergic (DA) neurons in the substantia nigra (SN). Mitochondrial DNA (mtDNA) deletions rise exponentially with age in humans and reach their highest levels
Publikováno v:
Behavioural Brain Research. 316:183-188
Friedreich’s Ataxia (FA) is a pediatric neurodegenerative disease whose clinical presentation includes ataxia, muscle weakness, and peripheral sensory neuropathy. The KIKO mouse is an animal model of FA with frataxin deficiency first described in 2
Autor:
Susan Perlman, Gino A Cortopassi, Luis Ruiz, Eleonora Napoli, Blythe Durbin-Johnson, Cecilia R Giulivi, Marek Napierala, Jill S. Napierala, Marissa Z. McMackin
Publikováno v:
PloS one, vol 14, iss 10
PLoS ONE, Vol 14, Iss 10, p e0223209 (2019)
PLoS ONE
PLoS ONE, Vol 14, Iss 10, p e0223209 (2019)
PLoS ONE
Friedreich's ataxia (FA) is a neurodegenerative disease with no approved therapy that is the result of frataxin deficiency. The identification of human FA blood biomarkers related to disease severity and neuro-pathomechanism could support clinical tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff56a8d7d79359d5ce012aeb7e2da760
https://escholarship.org/uc/item/8qb0j9xb
https://escholarship.org/uc/item/8qb0j9xb
Autor:
Marissa Z. McMackin, Blythe Durbin-Johnson, Victor N. Rivas, Giuliana Gianino, Brittni Ming-Whitfield, Carrie J. Finno, Andrew D. Miller, Birgit Puschner, Hadi Habib, Gino A Cortopassi, Monica Britton, Marietta Barro, Janel Merkel, Ingrid Gennity, Matthew H. Bordbari, Libin Xu, Cecilia K. Tran, Erin N. Burns, Erica A. Sloma
Mice with deficiency in tocopherol (alpha) transfer protein gene develop peripheral tocopherol deficiency and sensory neurodegeneration. Ttpa(−/−) mice maintained on diets with deficient α-tocopherol (α-TOH) had proprioceptive deficits by six m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b4ac99fc5c5db0d23de01d5ef960f1
https://europepmc.org/articles/PMC5940542/
https://europepmc.org/articles/PMC5940542/
Autor:
George R. Marcotte, Marissa Z. McMackin, Keith Baar, Gino A Cortopassi, Fawaz G. Haj, Alexey Tomilov, Stephen M Griffey, Zeyu Zhou, Shinichiro Koike, Jon J. Ramsey, Kyoungmi Kim, Kevork Hagopian, Jose Alberto Lopez-Dominguez, Marita A. Wallace, Dianna Tran, Denise M. Imai, Gabriella Perez, Megan N. Roberts, Trina A. Knotts, Elena Gutiérrez-Casado
Publikováno v:
Cell metabolism, vol 26, iss 3
Calorie restriction, without malnutrition, has been shown to increase lifespan and is associated with a shift away from glycolysis toward beta-oxidation. The objective of this study was to mimic this metabolic shift using low-carbohydrate diets and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6d485307440c6c51242b0d4ad22d46
https://escholarship.org/uc/item/17s0x9k2
https://escholarship.org/uc/item/17s0x9k2
Publikováno v:
Human molecular genetics, vol 26, iss 24
Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesi
Publikováno v:
Human molecular genetics, vol 26, iss 14
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by inherited deficiency of the mitochondrial protein Frataxin (FXN), which has no approved therapy and is an area in which biomarkers are needed for clinical development. Here, we inves
Autor:
Susan Perlman, Marissa Z. McMackin, Sunil Sahdeo, Heike Wulff, Brian D. Scott, Gino A Cortopassi, Mark A. Pook, Brandon M. Brown, Mittal Jasoliya
Publikováno v:
Sahdeo, S; Scott, BD; McMackin, MZ; Jasoliya, M; Brown, B; Wulff, H; et al.(2014). Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Human molecular genetics, 23(25), 6848-6862. doi: 10.1093/hmg/ddu408. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/76z689nb
Human molecular genetics, vol 23, iss 25
Human Molecular Genetics
Human molecular genetics, vol 23, iss 25
Human Molecular Genetics
© The Author 2014. Published by Oxford University Press. Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency