Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34.

Autor: Yan Shen, Marissa Z McMackin, Yuxi Shan, Alan Raetz, Sheila David, Gino Cortopassi

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

Neurobehavioral deficits in the KIKO mouse model of Friedreich’s ataxia

Autor: Marissa Z. McMackin, Gino A Cortopassi, Chelsea K. Henderson

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215a798d7de903b8697333eec4d7ee5c
https://doi.org/10.1016/j.bbr.2016.08.053

An innate immune response and altered nuclear receptor activation defines the spinal cord transcriptome during alpha-tocopherol deficiency in Ttpa-null mice

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/

Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules

Autor: Sandipan Datta, Gino A Cortopassi, Marissa Z. McMackin, Alfred K. Yu

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3bc73606839b38ace79d6e139c97091
https://pubmed.ncbi.nlm.nih.gov/29040550

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia

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

© 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05d2343fe6c95f2dd3f5872fa60c927c
https://doi.org/10.1093/hmg/ddu408