Results 91 to 100 of about 46,226 (179)

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

Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.

, 2002
A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities.
Pandolfo, Massimo, Beinlich, Brad R, Harding, Cary O, Salamat, M Shahriar, Gallagher, Catherine L, Pauli, Richard M, Poirer, Josée, Waclawik, Andrew J   +7 more
core  

Active pyruvate dehydrogenase in platelets from Friedreich's ataxia patients.

, 1980
Pyruvate dehydrogenase (PDH) activity was measured in platelets from 10 patients with Friedreich's ataxia, and 10 age-matched healthy control subjects. Both total PDH and active PDH activity were measured.
A. Barbeau, R. F. Butterworth, FILLA, ALESSANDRO   +2 more
core  

Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia.

, 1978
Pyruvate dehydrogenase (PDH), alpha-keto glutarate dehydrogenase (alpha-KGDH) and lipoamide dehydrogenase (LAD) were measured in platelets of 11 patients with typical Friedreich's ataxia and 10 normal control subjects. Serum LAD was also evaluated in the
G. Geoffroy, B. Lemieux, A. Barbeau, R. F. Butterworth, FILLA, ALESSANDRO   +4 more
core  

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  

Cardiomyopathy in Friedreich's ataxia.

, 2011
Friedreich's ataxia (FRDA), an autosomal recessive disorder, is characterized by spinocerebellar degeneration and cardiomyopathy. Here we explore some of the putative mechanisms underlying the cardiomyopathy in FRDA that have been elucidated using ...
Pandolfo, Massimo, Rahman, Faisal
core  

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia [PDF]

, 2008
Speech variability in groups of speakers with Parkinson's disease (PD) and with Friedreich's ataxia was compared with healthy controls. Speakers repeated the same phrase 20 times at one of two rates (fast or habitual).
Lowit, Anja, Howell, Peter, Anderson, Andrew   +2 more
core  

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

, 2019
BACKGROUND: Friedreich's ataxia is an autosomal-recessive cerebellar ataxia caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress.
Malisan F., Pedini G., Mannucci L., Toschi N., Alaimo G., Fortuni S., Testi R., Luffarelli R., Massaro D. S., Condo I., Rufini A., Pacini L., Panarello L., Benini M., Alfedi G., Serio D.   +15 more
core   +1 more source

Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

, 2017
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA).
Maggi, Fernanda [UNIFESP], Pedroso, Jose Luiz [UNIFESP], Rezende Filho, Flavio Moura [UNIFESP], Drumond Gama, Maria Thereza [UNIFESP], Barsottini, Orlando G. P. [UNIFESP], Salomao, Rubens Paulo A. [UNIFESP]   +5 more
core   +1 more source