Results 31 to 40 of about 4,355 (175)

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,
Pedersen, TL, Cortopassi, G, Newman, John W, Shen, Yan, Pedersen, Theresa L, Pook, Mark, Hayashi, G, Newman, JW, Pook, M, Hayashi, Genki, Cortopassi, Gino, Shen, Y   +11 more
core   +1 more source

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Madhavi Sandi, Al-Mahdawi, S, Sahar eAl-Mahdawi, Chiranjeevi eSandi, Madhavi eSandi, Sara eAnjomani-Virmouni, Sandi, C, Virmouni, SA, Sandi, M, Pook, MA, Mark Adrian Pook, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sara Anjomani Virmouni, Mark A. Pook   +14 more
core   +1 more source

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model [PDF]

, 2012
Copyright © The Author 2012. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits ...
B. Tomassini, I. Condo, Ezzatizadeh, V, Condò, I, TOMASSINI, BARBARA, Sandi, C, Testi, R, Al Mahdawi, S, Arcuri, G, Pook, M, C. Sandi, Malisan, F, R. Testi, S. Fortuni, M. Pook, V. Ezzatizadeh, Tomassini, B, MALISAN, FLORENCE, Fortuni, S, Al-Mahdawi, S, S. Al Mahdawi, TESTI, ROBERTO, G. Arcuri, CONDO', IVANO, Casali, C, F. Malisan, CASALI, Carlo   +26 more
core   +1 more source

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN ...
Anjomani-Virmouni, S, Ezzatizadeh, V, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Pook Mark A., Mark A Pook   +17 more
core   +1 more source

Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines

Nature Communications, 2023
Oxidative stress is associated with cardiovascular and neurodegenerative diseases. Here we report studies of neurovascular oxidative stress in chemogenetic transgenic mouse lines expressing yeast D-amino acid oxidase (DAAO) in neurons and vascular ...
Shambhu Yadav, Markus Waldeck-Weiermair, Fotios Spyropoulos, Roderick Bronson, Arvind K. Pandey, Apabrita Ayan Das, Alexander C. Sisti, Taylor A. Covington, Venkata Thulabandu, Shari Caplan, William Chutkow, Benjamin Steinhorn, Thomas Michel   +12 more
doaj   +1 more source

In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf, Tyler L. Perfitt, Anna Kuperman, Renea Gooch, Ramesh C. Kovi, Karrie A. Brenneman, Xian Chen, Dinesh Hirenallur-Shanthappa, Tiffany Ma, Basel T. Assaf, Ingrid Pardo, Tania Franks, Laura Monarski, Ting-Wen Cheng, Kevin Le, Chunyan Su, Suryanarayan Somanathan, Laurence O. Whiteley, Christine Bulawa, Marko J. Pregel, Alain Martelli   +20 more
doaj   +1 more source

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Orphanet Journal of Rare Diseases, 2022
Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group   +11 more
doaj   +1 more source

Predictors of loss of ambulation in Friedreich's ataxia

EClinicalMedicine, 2020
Background: Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals.
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
doaj   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Pook, MA, Al-Mahdawi, S, Sandi, C
core   +1 more source

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 2; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2023
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source