Results 131 to 140 of about 5,449 (210)

Einfluss der Hämoglobinsynthese auf die Expression von Frataxin

, 2009
Die Friedreichs Ataxie ist eine neurodegenerative autosomal rezessiv vererbbare Krankheit mit einer Häufigkeit von 1:50.000 und einer Prävalenz in der europäischstämmigen Bevölkerung.
Neumann, Laura Anna Claire
core  

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 more
europepmc   +1 more source

Autophagy activation by urolithin-a derivative UA-36 mitigates Friedreich's ataxia pathologies induced by frataxin deficiency. [PDF]

Mol Biomed
Gong Q, Liu T, Han X, Zhang R, Liu X, Xiong B, Ali T, Huang J, Xie Y, Li S, Yang X.   +10 more
europepmc   +1 more source

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich\u27s ataxia.

, 2013
BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Belmonte, Matthew, Plasterer, Heather L, Rusche, James R, Lynch, David R, Egan, Elizabeth, Deutsch, Eric C   +5 more
core  

Chemical modulation of Miro1 alleviates cell-type-specific vulnerabilities in Friedreich's ataxia. [PDF]

Cell Chem Biol
Chandra S, Kwak CS, Du Z, Barisano G, Nguyen KT, Vinogradov V, Wang X.   +6 more
europepmc   +1 more source

Oligomerization of human and bacterial frataxin Structural and functional studies

, 2017
Iron is a one of the critical elements in our life, being the most common element on earth, forming most of the inner and outer earth’s core. In our bodies iron is required in small amounts for biological processes to be performed.
Lund University., Abdalkhalik, Mostafa,
core  

Astrocytic frataxin deficiency drives neurocognitive impairment in sickle cell mice. [PDF]

PNAS Nexus
Novelli EM, Lenhart SC, Foley LM, Sekar N, Mondal P, Wang H, Hitchens TK, Ghosh S, Chan SY, Hu X, Hazra R.   +10 more
europepmc   +1 more source

Frataxin (FXN; FRDA) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency. [PDF]

Nature
Meisel JD, Joshi PR, Spelbring AN, Wang H, Wellner SM, Wiesenthal PP, Miranda M, McCoy JG, Barondeau DP, Ruvkun G, Mootha VK.   +10 more
europepmc   +1 more source

MuFaDDG: a sequence-based multiscale feature fusion framework for protein stability changes prediction. [PDF]

Bioinformatics
Gong J, Ma P, Ren Z, Li S, Fu Z, Sun P, Ni M, Bo X.   +7 more
europepmc   +1 more source