Results 31 to 40 of about 10,061 (229)

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Al-Mahdawi, Al-Mahdawi, Block, Campuzano, Campuzano, Capdevila, Capdevila, Castaldo, Chantrel-Groussard, Chen, Cossee, Dewitt, Durr, Durr, Feng, Genki Hayashi, Gino Cortopassi, Harding, John W. Newman, Kang, Koeppen, Li, Liang, Lin, Lu, Mark Pook, Masi, Michael, Miranda, Node, O'Flaherty, Paupe, Piemonte, Piro, Praticò, Qin, Ristow, Rojo, Samuelsson, Sanchez-Mejia, Schulz, Shan, Shi, Shin, Small, Smith, Strokin, Tan, Teismann, Theresa L. Pedersen, Tian, Wardlaw, Wong, Wong, Xi, Yan, Yan Shen, Zhang   +57 more
core   +4 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 ...
Miranda, C, Santos, M M, Ohshima, K, Smith, J. F., Li, Liangtao, Bunting, Michaeline, Cossée, Mireille, Koenig, Michael, Sequeiros, Jorge, Kaplan, Jerry, Pandolfo, Massimo   +10 more
openaire   +2 more sources

Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia

Frontiers in Neuroscience, 2022
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by deficiency of the mitochondrial protein frataxin. Lack of frataxin causes neuronal loss in various areas of the CNS and PNS.
Elizabeth Mercado-Ayón, Nathan Warren, Sarah Halawani, Layne N. Rodden, Lucie Ngaba, Yi Na Dong, Joshua C. Chang, Carlos Fonck, Fulvio Mavilio, Fulvio Mavilio, David R. Lynch, David R. Lynch, Hong Lin   +12 more
doaj   +1 more source

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

medRxiv, 2023
Calcitriol, the active form of vitamin D (also known as 1,25‐dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell models of Friedreich ataxia (FRDA).
Berta Alemany‐Perna, J. Tamarit, E. Cabiscol, F. Delaspre, A. Miguela, J. M. Huertas-Pons, A. Quiroga-Varela, Miguel Merchan Ruiz, D. López Domínguez, Lluís Ramió i Torrentà, David Genís, J. Ros   +11 more
semanticscholar   +1 more source

Plant Frataxin in Metal Metabolism [PDF]

Frontiers in Plant Science, 2018
La frataxina es una proteína altamente conservada de procariotas a eucariotas. Se han postulado varias funciones relacionadas con el metabolismo del hierro para esta proteína, incluyendo el grupo Fe-S y la síntesis de hemo, la respuesta al daño oxidativo y la fosforilación oxidativa.
Diego F. Gomez‐Casati, María V. Busi, María A. Pagani   +2 more
openaire   +4 more sources

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich’s Ataxia

Frontiers in Neuroscience, 2022
Friedreich’s ataxia (FRDA) is the most prevalent autosomic recessive ataxia and is associated with a severe cardiac hypertrophy and less frequently diabetes.
Beata Monfort, K. Want, Sylvain Gervason, B. D'Autréaux   +3 more
semanticscholar   +1 more source

Ferrochelatase activity of plant frataxin [PDF]

Biochimie, 2019
Frataxin plays a key role in cellular iron homeostasis of different organisms. It is engaged in several activities at the FeS cluster assembly machinery and it is also involved in heme biosynthesis. In plants, two genes encoding ferrochelatases (FC1 and FC2) catalyze the incorporation of iron into protoporphyrin IX in the last stage of heme synthesis ...
Alejandro M. Armas, Manuel Balparda, Agustina Terenzi, Maria V. Busi, Maria A. Pagani, Diego F. Gomez-Casati   +5 more
openaire   +3 more sources

Frataxin controls ketone body metabolism through regulation of OXCT1

PNAS Nexus, 2022
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by the deficiency of mitochondrial protein frataxin, which plays a crucial role in iron–sulphur cluster formation and ATP production.
Y. Dong, C. Mesaros, Peining Xu, Elizabeth Mercado-Ayón, Sarah M. Halawani, L. Ngaba, Nathan Warren, P. Sleiman, Layne N. Rodden, K. Schadt, I. Blair, D. Lynch   +11 more
semanticscholar   +1 more source

Crystal Structure of Human Frataxin [PDF]

Journal of Biological Chemistry, 2000
Friedreich's ataxia, an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cardiomyopathy, and diabetes mellitus, is caused by decreased frataxin production or function. The structure of human frataxin, which we have determined at 1.8-A resolution, reveals a novel protein fold.
S, Dhe-Paganon, R, Shigeta, Y I, Chi, M, Ristow, S E, Shoelson   +4 more
openaire   +2 more sources

Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle

JCI Insight, 2022
Friedreich’s ataxia (FRDA) is an inherited disorder caused by reduced levels of frataxin (FXN), which is required for iron-sulfur cluster biogenesis. Neurological and cardiac comorbidities are prominent and have been a major focus of study.
C. Vásquez-Trincado, J. Dunn, Ji In Han, Briyanna N. Hymms, Jaclyn Tamaroff, Monika Patel, Sara Nguyen, Anna Dedio, Kristin L Wade, Chinazo Enigwe, Zuzana Nichtova, D. Lynch, G. Csordás, Shana E. McCormack, E. Seifert   +14 more
semanticscholar   +1 more source