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https://www.readbyqxmd.com/read/28175303/friedreich-ataxia-induced-pluripotent-stem-cell-derived-neurons-show-a-cellular-phenotype-that-is-corrected-by-a-benzamide-hdac-inhibitor
#1
Franca Codazzi, Amelié Hu, Myriam Rai, Simona Donatello, Floramarida Salerno Scarzella, Elisabeth Mangiameli, Ilaria Pelizzoni, Fabio Grohovaz, Massimo Pandolfo
No abstract text is available yet for this article.
November 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28139258/targeting-class-i-histone-deacetylases-in-a-complex-environment
#2
REVIEW
Christopher J Millard, Peter J Watson, Louise Fairall, John W R Schwabe
Histone deacetylase (HDAC) inhibitors are proven anticancer therapeutics and have potential in the treatment of many other diseases including HIV infection, Alzheimer's disease, and Friedreich's ataxia. A problem with the currently available HDAC inhibitors is that they have limited specificity and target multiple deacetylases. Designing isoform-selective inhibitors has proven challenging due to similarities in the structure and chemistry of HDAC active sites. However, the fact that HDACs 1, 2, and 3 are recruited to several large multi-subunit complexes, each with particular biological functions, raises the possibility of specifically inhibiting individual complexes...
January 27, 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/28131391/new-hearts-for-friedreich-patients
#3
David Pleasure
No abstract text is available yet for this article.
January 12, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28109580/cardiac-transplantation-in-friedreich-ataxia-extended-follow-up
#4
Ashley McCormick, Julianna Shinnick, Kim Schadt, Rose Rodriguez, Linda Addonizio, Michio Hirano, Susan Perlman, Kimberly Y Lin, David R Lynch
Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued...
January 10, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28072384/impact-of-cerebellar-atrophy-on-cortical-gray-matter-and-cerebellar-peduncles-as-assessed-by-voxel-based-morphometry-and-high-angular-resolution-diffusion-imaging
#5
Michael Dayan, G Olivito, M Molinari, Mara Cercignani, Marco Bozzali, M Leggio
In recent years the cerebellum has been attributed amore important role in higher-level functions than previously believed. We examined a cohort of patients suffering from cerebellar atrophy resulting in ataxia, with two main objectives: first to investigate which regions of the cerebrum were affected by the cerebellar degeneration, and second to assess whether diffusion magnetic resonance imaging (dMRI) metrics within the medial (MCP) and superior cerebellar peduncle (SCP) - namely fractional anisotropy (FA) and radial diffusivity (RD) - could be used as a biomarker in patients with this condition...
October 2016: Functional Neurology
https://www.readbyqxmd.com/read/28064324/mitochondrial-iron-sulfur-cluster-biogenesis-from-molecular-understanding-to-clinical-disease
#6
Majid Alfadhel, Marwan Nashabat, Qais Abu Ali, Khalid Hundallah
Iron_sulfur clusters (ISCs) are known to play a major role in various protein functions. Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28050212/otoneurological-abnormalities-in-patients-with-friedreich-s-ataxia
#7
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases. Nystagmus and hearing loss (in some cases) make up some of the common symptoms seen in this disorder. Objective The objective of this study is to examine vestibular disorders in patients with Friedreich ataxia. Methods We conducted a retrospective cross-sectional study. We evaluated 30 patients with ages ranging from six to 72 years (mean age of 38...
January 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28039539/a-wearable-proprioceptive-stabilizer-for-rehabilitation-of-limb-and-gait-ataxia-in-hereditary-cerebellar-ataxias-a-pilot-open-labeled-study
#8
Luca Leonardi, Maria Gabriella Aceto, Christian Marcotulli, Giuseppe Arcuria, Mariano Serrao, Francesco Pierelli, Paolo Paone, Alessandro Filla, Alessandro Roca, Carlo Casali
The aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. Eleven adult patients with a confirmed genetic diagnosis of autosomal dominant spinocerebellar ataxia or Friedreich's ataxia were asked to wear an active device for 3 weeks. Assessments were performed at baseline, after the device use (T1), and 3 weeks after (T2). SARA, 9-HPT, PATA, 6MWT, and spatial and temporal gait parameters, measured with a BTS-G-Walk inertial sensor, were used as study endpoints...
December 31, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/28024081/deletion-of-the-gaa-repeats-from-the-human-frataxin-gene-using-the-crispr-cas9-system-in-yg8r-derived-cells-and-mouse-models-of-friedreich-ataxia
#9
D L Ouellet, K Cherif, J Rousseau, J P Tremblay
The Friedreich ataxia is a monogenic disease due to a hyperexpanded GAA triplet located within the first intron of the frataxin gene that causes transcriptional issues. The resulting frataxin protein deficiency leads to a Fe-S cluster biosynthesis dysfunction in the mitochondria and to oxidative stress and cell death. Here we use the CRISPR-Cas9 system to remove the mutated GAA expansion and restore the frataxin gene transcriptional activity and protein level. Both YG8R and YG8sR mouse models and cell lines derived from these mice were used to CRISPR-edited successfully the GAA expansion in vitro and in vivo...
January 19, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28009062/cytokine-therapy-mediated-neuroprotection-in-a-friedreich-s-ataxia-mouse-model
#10
Kevin C Kemp, Nadia Cerminara, Kelly Hares, Juliana Redondo, Amelia J Cook, Harry R Haynes, Bronwen R Burton, Mark Pook, Richard Apps, Neil J Scolding, Alastair Wilkins
OBJECTIVES: Friedreich's ataxia is a devastating neurological disease currently lacking any proven treatment. We studied the neuro-protective effects of the cytokines granulocyte-colony stimulating factor and stem cell factor in a humanised murine model of Friedreich's ataxia. METHODS: Mice received monthly subcutaneous infusions of cytokines while also being assessed at monthly time points using an extensive range of behavioural motor performance tests. After 6 months of treatment, neurophysiological evaluation of both sensory and motor nerve conduction was performed...
December 23, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28000230/mitochondrial-capacity-muscle-endurance-low-energy-in-friedreich-ataxia
#11
Hannah M Bossie, T Bradley Willingham, Robbi A Van Schoick, Patrick J O'Connor, Kevin K McCully
INTRODUCTION: We noninvasively evaluated skeletal muscle mitochondrial capacity, muscle-specific endurance, and energy/fatigue feelings in persons with Friedreich ataxia (FRDA) and able-bodied controls (AB). METHODS: Forearm mitochondrial capacity was measured in FRDA (n=16) and AB (n=10) using the rate of recovery of oxygen consumption after electrical stimulation with near-infrared spectroscopy. Mechanomyography (MMG) assessed muscle endurance after electrical stimulation for 3-minutes at 2Hz, 4Hz, and 6Hz...
December 21, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27971708/a-cost-of-illness-study-evaluating-the-healthcare-and-societal-burden-of-friedreich-s-ataxia-in-the-united-kingdom
#12
K Hanman, A Griffiths, A Bobrowska, J Vallortigara, J Greenfield, R S Thompson
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27965395/causes-of-progressive-cerebellar-ataxia-prospective-evaluation-of-1500-patients
#13
M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend, S Duty, J Taylor, N Hoggard
BACKGROUND: Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. Establishing a diagnosis requires a methodical approach with expert clinical evaluation and investigations. We describe the causes of ataxia in 1500 patients with cerebellar ataxia. METHODS: All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigations, including, where appropriate genetic testing using next-generation sequencing (NGS)...
December 13, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27941692/liver-growth-factor-lgf-upregulates-frataxin-protein-expression-and-reduces-oxidative-stress-in-friedreich-s-ataxia-transgenic-mice
#14
Lucía Calatrava-Ferreras, Rafael Gonzalo-Gobernado, Diana Reimers, Antonio S Herranz, María J Casarejos, Adriano Jiménez-Escrig, Javier Regadera, Juan Velasco-Martín, Manuela Vallejo-Muñoz, Juan José Díaz-Gil, Eulalia Bazán
Friedreich's ataxia (FA) is a severe disorder with autosomal recessive inheritance that is caused by the abnormal expansion of GAA repeat in intron 1 of FRDA gen. This alteration leads to a partial silencing of frataxin transcription, causing a multisystem disorder disease that includes neurological and non-neurological damage. Recent studies have proven the effectiveness of neurotrophic factors in a number of neurodegenerative diseases. Therefore, we intend to determine if liver growth factor (LGF), which has a demonstrated antioxidant and neuroprotective capability, could be a useful therapy for FA...
December 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27901468/loss-of-frataxin-activates-the-iron-sphingolipid-pdk1-mef2-pathway-in-mammals
#15
Kuchuan Chen, Tammy Szu-Yu Ho, Guang Lin, Kai Li Tan, Matthew N Rasband, Hugo J Bellen
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by mutations in Frataxin (FXN). Loss of FXN causes impaired mitochondrial function and iron homeostasis. An elevated production of reactive oxygen species (ROS) was previously proposed to contribute to the pathogenesis of FRDA. We recently showed that loss of frataxin homolog (fh), a Drosophila homolog of FXN, causes a ROS independent neurodegeneration in flies (Chen et al., 2016). In fh mutants, iron accumulation in the nervous system enhances the synthesis of sphingolipids, which in turn activates 3-phosphoinositide dependent protein kinase-1 (Pdk1) and myocyte enhancer factor-2 (Mef2) to trigger neurodegeneration of adult photoreceptors...
November 30, 2016: ELife
https://www.readbyqxmd.com/read/27881490/new-micellar-electrokinetic-chromatographic-method-for-analyzing-idebenone-in-pediatric-formulations
#16
Mario Contin, Fabián Buontempo, Cristian García Becerra, Cecilia Dobrecky, Silvia Lucangioli, Valeria Tripodi
A novel, simple and reliable method based on micellar electrokinetic chromatography with ultraviolet detection was developed to analyze idebenone in a pediatric formulation. Idebenone is a synthetic short chain benzoquinone that acts as an electron carrier in the mitochondrial electron transport chain facilitating the production of adenosine triphosphate. It can be found in two different redox states that differ in their physiological properties. Idebenone has been investigated as a treatment in several neurological disorders like Friedreich's ataxia, Leber's hereditary optic neuropathy, mitochondrial encephalomyopathies and senile dementia...
November 23, 2016: Journal of Chromatographic Science
https://www.readbyqxmd.com/read/27846236/disruption-of-higher-order-dna-structures-in-friedreich-s-ataxia-gaa-n-repeats-by-pna-or-lna-targeting
#17
Helen Bergquist, Cristina S J Rocha, Rubén Álvarez-Asencio, Chi-Hung Nguyen, Mark W Rutland, C I Edvard Smith, Liam Good, Peter E Nielsen, Rula Zain
Expansion of (GAA)n repeats in the first intron of the Frataxin gene is associated with reduced mRNA and protein levels and the development of Friedreich's ataxia. (GAA)n expansions form non-canonical structures, including intramolecular triplex (H-DNA), and R-loops and are associated with epigenetic modifications. With the aim of interfering with higher order H-DNA (like) DNA structures within pathological (GAA)n expansions, we examined sequence-specific interaction of peptide nucleic acid (PNA) with (GAA)n repeats of different lengths (short: n=9, medium: n=75 or long: n=115) by chemical probing of triple helical and single stranded regions...
2016: PloS One
https://www.readbyqxmd.com/read/27809706/oxidative-stress-and-mitochondrial-dysfunction-linked-neurodegenerative-disorders
#18
REVIEW
Md Torequl Islam
Reactive species play an important role in physiological functions. Overproduction of reactive species, notably reactive oxygen (ROS) and nitrogen (RNS) species along with the failure of balance by the body's antioxidant enzyme systems results in destruction of cellular structures, lipids, proteins, and genetic materials such as DNA and RNA. Moreover, the effects of reactive species on mitochondria and their metabolic processes eventually cause a rise in ROS/RNS levels, leading to oxidation of mitochondrial proteins, lipids, and DNA...
January 2017: Neurological Research
https://www.readbyqxmd.com/read/27807401/alzheimer-disease-crosstalk-between-the-canonical-wnt-beta-catenin-pathway-and-ppars-alpha-and-gamma
#19
REVIEW
Alexandre Vallée, Yves Lecarpentier
The molecular mechanisms underlying the pathophysiology of Alzheimer's disease (AD) are still not fully understood. In AD, Wnt/beta-catenin signaling has been shown to be downregulated while the peroxisome proliferator-activated receptor (PPAR) gamma (mARN and protein) is upregulated. Certain neurodegenerative diseases share the same Wnt/beta-catenin/PPAR gamma profile, such as bipolar disorder and schizophrenia. Conversely, other NDs share an opposite profile, such as amyotrophic lateral sclerosis, Parkinson's disease, Huntington's disease, multiple sclerosis, and Friedreich's ataxia...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27781971/impact-of-cerebellar-atrophy-on-cortical-gray-matter-and-cerebellar-peduncles-as-assessed-by-voxel-based-morphometry-and-high-angular-resolution-diffusion-imaging
#20
Michael Dayan, G Olivito, M Molinari, Mara Cercignani, Marco Bozzali, M Leggio
In recent years the cerebellum has been attributed amore important role in higher-level functions than previously believed. We examined a cohort of patients suffering from cerebellar atrophy resulting in ataxia, with two main objectives: first to investigate which regions of the cerebrum were affected by the cerebellar degeneration, and second to assess whether diffusion magnetic resonance imaging (dMRI) metrics within the medial (MCP) and superior cerebellar peduncle (SCP) - namely fractional anisotropy (FA) and radial diffusivity (RD) - could be used as a biomarker in patients with this condition...
October 26, 2016: Functional Neurology
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