Results 171 to 180 of about 5,449 (210)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies. [PDF]

Ann Neurol
Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M.   +10 more
europepmc   +1 more source

The TRKB Agonist 7,8-dihydroxyflavone Alleviates DNA Damage and Apoptosis in a Neuronal Cell Model of Friedreich's Ataxia. [PDF]

Mol Neurobiol
Galán-Cruz J, Vicente-Acosta A, Loría F, Díaz-Nido J, Herranz-Martín S.   +4 more
europepmc   +1 more source

Advanced Heart Failure in Friedreich's Ataxia: A Story of Challenges, Opportunities, and Hope. [PDF]

JACC Case Rep
Miyashita S, Zaki A, Schlabach K, Kim G, Vierecke JK, Lynch D, Tan C, Hsich E, Alvarez P.   +8 more
europepmc   +1 more source

Frataxin overexpressing mice

FEBS Letters, 2004
Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated.
CARLOS J Miranda, Manuela M Santos, Keiichi Ohshima   +2 more
exaly   +5 more sources

Frataxin knockin mouse [PDF]

FEBS Letters, 2002
Friedreich ataxia is the consequence of frataxin deficiency, most often caused by a GAA repeat expansion in intron 1 of the corresponding gene. Frataxin is a mitochondrial protein involved in iron homeostasis. As an attempt to generate a mouse model of the disease, we introduced a (GAA)230 repeat within the mouse frataxin gene by homologous ...
CARLOS J Miranda, Manuela M Santos, Keiichi Ohshima   +2 more
exaly   +5 more sources

Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans

Aging Cell, 2005
Defects in the expression of the mitochondrial protein frataxin cause Friedreich's ataxia, an hereditary neurodegenerative syndrome characterized by progressive ataxia and associated with reduced life expectancy in humans.
Natascia Ventura, Ivano Condò, Thomas E Johnson   +2 more
exaly   +2 more sources

Frataxin participates to the hypoxia-induced response in tumors [PDF]

Cell Death and Disease, 2011
Defective expression of frataxin is responsible for the degenerative disease Friedreich's ataxia. Frataxin is a protein required for cell survival since complete knockout is lethal. Frataxin protects tumor cells against oxidative stress and apoptosis but
Ilaria Guccini, Ivano Condò, Alessandra Rufini   +2 more
exaly   +2 more sources