Results 101 to 110 of about 5,673 (157)

Impact of Omaveloxolone on Serum Lipids in Patients with Friedreich Ataxia: A 1-Year Real-World Analysis. [PDF]

CNS Drugs
Buchinger D, Scherer T, Dalos D, Milenkovic I.   +3 more
europepmc   +1 more source

Salutary Effects of Overexpression of Rsm22, an Assembly Factor for the Mitochondrial Ribosome, on Frataxin/Yfh1 Depletion Phenotypes in <i>Saccharomyces cerevisiae</i>. [PDF]

Biomolecules
Pandey AK, Singh P, Pain J, Dancis A, Pain D.   +4 more
europepmc   +1 more source

Arctigenin derivative (ARC-18) improved mitochondrial dysfunction and ameliorated frataxin deficiency symptoms via PGC-1α signaling. [PDF]

Genes Dis
Gong Q, Han X, Liu T, Xiong B, Zhang B, Xie Y, Wan H, Ali T, Yang X, Li S.   +9 more
europepmc   +1 more source

AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial.

JAMA Cardiol
Crystal RG, Weinsaft JW, Kaminsky SM, Caragiulo A, Savage N, Patel A, Gavrilova RH, Perlman SL, Galbraith M, Kahlon U, Krishnan U, Kaner RJ, Sanders A, Vo M, Sarva H, Yoo A, Sondhi D, De BP, Mezey JG, Aubert G, Khan A, Selvan N, Bhalla N, Adler E, Zesiewicz T.   +24 more
europepmc   +1 more source

Frataxin Structure and Function

, 2019
Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Frataxin deficiency causes the neurodegenerative disease Friedreich's Ataxia. Valuable knowledge has been gained on the structural dynamics of frataxin, metal-ion-protein interactions, as well as on the effect of mutations on protein conformation, stability ...
Castro I. H., Pignataro M. F., Sewell K. E., Espeche L. D., Herrera M. G., Noguera M. E., Dain L., Nadra A. D., Aran M., Smal C., Gallo M., Santos J.   +11 more
openaire   +6 more sources

Frataxin deficiency and mitochondrial dysfunction

Mitochondrion, 2002
Friedreich ataxia (FA) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. The Friedreich ataxia gene (FRDA) encodes a small mitochondrial protein, frataxin, which is produced in insufficient amounts in the disease as a consequence of a GAA triplet repeat expansion in the first intron of the ...
Pandolfo, Massimo
openaire   +4 more sources

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Frataxin fracas

Nature Genetics, 1997
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Cossee M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Molte MD, Canizares J, DeFrutos R, Pianese L, Cavalcanti F, MONTICELLI A, Cocozza S, Montermini L, Pandolfo M   +16 more
openaire   +4 more sources