Results 81 to 90 of about 404 (117)

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism

Nature Communications, 2019
The iron-sulfur cluster (ISC) assembly complex is activated by frataxin (FXN) and Friedreich’s ataxia is caused by FXN deficiency. Here the authors present the 3.2 Å resolution cryo-EM structure of the human frataxin bound ISC complex and discuss how FXN
Nicholas G. Fox, Xiaodi Yu, Xidong Feng, Henry J. Bailey, Alain Martelli, Joseph F. Nabhan, Claire Strain-Damerell, Christine Bulawa, Wyatt W. Yue, Seungil Han   +9 more
doaj   +1 more source

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +1 more source

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study

Annals of Clinical and Translational Neurology
Objectives Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to patients over 16 
Christian Rummey, Susan Perlman, Sub. H. Subramony, Jennifer Farmer, David R. Lynch   +4 more
doaj   +1 more source

Friedreich’s Ataxia-A Case Report

Journal of Rawalpindi Medical College, 2018
Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine
Tahreem Muntaha, Saman Saleem, Sana Qurban, Mawra Noor   +3 more
doaj  

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics

Annals of Indian Academy of Neurology
Background and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease.
Rohan Mahale, Meera Purushottam, Raviprakash Singh, Ramachandra Yelamanchi, Nitish Kamble, Vikram Holla, Pramod K. Pal, Sanjeev Jain, Ravi Yadav   +8 more
doaj   +1 more source

Friedreich's ataxia patient pathway in Europe

Frontiers in Health Services
BackgroundFriedreich's ataxia (FA) is a rare progressive and multi systemic neurodegenerative disorder characterized by loss of coordination, typically resulting in loss of ambulation.
Julie Vallortigara, Julie Greenfield, Barry Hunt, Bart-Jan Schuman, Deborah Hoffman, Suzanne Booth, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti   +11 more
doaj   +1 more source

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia

Annals of Clinical and Translational Neurology
Objective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations.
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun   +7 more
doaj   +1 more source

Cardiomyopathy in Friedreich’s Ataxia [PDF]

European Heart Journal, 2017
Pablo, Salazar, Raksha, Indorkar, Michael, Dietrich, Afshin, Farzaneh-Far   +3 more
openaire   +2 more sources

A Case of Friedreich's Ataxia [PDF]

BMJ, 1902
openaire   +2 more sources

Calcitriol in Friedreich Ataxia

Movement Disorders
Shana E. McCormack, David R. Weber, David R. Lynch   +2 more
openaire   +2 more sources