Chemical Probes Identify a Role for Histone Deacetylase 3 in Friedreich's Ataxia Gene Silencing

Chemistry & Biology, Volume 16, Issue 9, 980-989, 25 September 2009
Chunping Xu1, Elisabetta Soragni1, C. James Chou1, David Herman1, Heather L. Plasterer2, James R. Rusche2 and Joel M. Gottesfeld1,

1 Department of Molecular Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
2 Repligen Corporation, Waltham, MA 02453, USA

Keywords: pimelic diphenylamide histone deacetylase (HDAC) inhibitors, Friedreich's ataxia (FRDA), Huntington's disease, HDAC3.

Neurophysiological evaluation in children with Friedreich's ataxia.

Early Hum Dev. 2009 Sep 21.

Sival DA, du Marchie Sarvaas GJ, Brouwer OF, Uges DR, Verschuuren-Bemelmans CC, Maurits NM, Brunt ER, van der Hoeven JH.


Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, The Netherlands.

Keywords:  Friedreich's ataxia (FRDA children), ICARS, idebenone treatment, longitudinal neurophysiological parameters,   two-year study,  period, cardiomyopathy (6-18years), sensory evoked potentials (SEPs), F response, peripheral nerve conduction , dynamometry, SEPs , peroneal nerve conduction velocity,  not substantiate neurologic improvement.

SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.

Hum Mutat. 2009 Jul;30(7):1037-42
Faruq M, Scaria V, Singh I, Tyagi S, Srivastava AK, Mukerji M.


Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology-Council of Scientific and Industrial Research (IGIB-CSIR), Delhi, India.

Keyword: Repeat expansion, autosomal dominant cerebellar ataxias (ADCAs), spinocerebellar ataxias (SCAs),   clinical classification,  prevalence, phenotypic expression,  ethnic groups, SCA-locus-specific variation database (LSVD),  SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich's ataxia [FRDA], dentatorubral-pallidoluysian atrophy [DRPLA]),  Leiden Open (source) Variation Database (LOVD) software,  clinical features, HGVS Nomenclature guidelines.

High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

Acta Myol. 2009 Jul;28(1):24-6.

Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou K.
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Keyword: Friedreich's ataxia, Paphos, Cyprus,  GAA triplet repeat, frataxin gene,  carrier frequency,  organized prevention programme.

Mitochondrial Superoxide Radicals Differentially Affect Muscle Activity and Neural Function

Genetics, Vol. 183, 175-184, September 2009

Tanja Godenschwege*,1, Renée Forde,1, Claudette P. Davis, Anirban Paul,2, Kristopher Beckwith and Atanu Duttaroy,3


* Department of Biological Sciences, Florida Atlantic University, Boca Raton, Florida 33431 and Biology Department, Howard University, Washington, DC 20059

Disruption to higher order processes in Friedreich ataxia

doi:10.1016/j.neuropsychologia.2009.09.009
Received 1 April 2009; revised 21 July 2009; accepted 11 September 2009. 

Available online 17 September 2009.

Joanne Fielding^{a, b, c,}, Louise Corben^{d, e}, Phillip Cremer^f, Lynette Millist^c, Owen White^{b, c} and Martin Delatycki^{d, g}

^aCentre for Neuroscience, University of Melbourne, Parkville, Victoria, Australia
^bCentre for Developmental Psychiatry and Psychology, School of Psychology, Psychiatry, and Psychological Medicine, Monash University, Clayton, Victoria, Australia
^cDepartment of Neurology, Royal Melbourne Hospital, Parkville, Victoria, Australia
^dBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Victoria, Australia
^eExperimental Neuropsychology Research Unit, School of Psychology, Psychiatry, and Psychological Medicine, Monash University, Clayton, Victoria, Australia
^fRoyal North Shore Hospital, N.S.W., Australia
^gDepartment of Paediatrics, University of Melbourne, Victoria, Australia

 Keywords: Friedreich ataxia (FRDA); cognition; saccades; cerebellum  

Mitochondria in neurodegenerative disorders: regulation of the redox state and death signaling leading to neuronal death and survival

Journal of Neural Transmission,

Makoto Naoi1 , Wakako Maruyama2, Hong Yi1, Keiko Inaba1, Yukihiro Akao1, 3 and Masayo Shamoto-Nagai2


(1) Department of Neurosciences, Gifu International Institute of Biotechnology, 1-1 Nakafudogaoka, Kakamigahara Gifu, 504-0838, Japan

(2) Department of Geriatric Medicine, National Institute for Geriatrics and Gerontology, Obu, Aichi, Japan

(3) United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan

Received: 4 March 2009 Accepted: 30 August 2009 Published online: 18 September 2009

Keywords:  Apoptosis - Mitochondria - Oxidative stress - Redox state - Neuroprotection - MAO inhibitor

Functional MRI study of Friedreich's ataxia using Simon task

NeuroImage, Volume 47, Supplement 1, July 2009, Pages S39-S41

H Akhlaghi, L Corben, E Storey, J Bradshaw, A Churchyard, N Georgiou-Karistianis, M Delatycki and G Egan

http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WNP-4X3PHYG-13&_user=10&_coverDate=07%2F31%2F2009&_alid=1016977109&_rdoc=1&_fmt=high&_orig=search&_cdi=6968&_sort=r&_docanchor=&view=c&_ct=23&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=b42469b7f822812d2217b37f2f5f0bc5

 

(From Wikipedia, the free encyclopedia) In psychology, the Simon effect reaction times are usually faster and more accurate when the stimulus occurs in the same relative location as the response, even if the stimulus location is irrelevant to the task.

Negative feedback maintenance of heme homeostasis by its receptor, Rev-erbα

Genes & Development, Received May 29, 2009, Accepted August 7, 2009.

Nan Wu, Lei Yin, Elyisha A. Hanniman, Shree Joshi and Mitchell A. Lazar

Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Department of Genetics, and The Institute for Diabetes, Obesity, and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA

Keywords: Intracellular heme levels, mitochondrial respiration, iron  toxicity, negative feedback mechanism,  nuclear heme receptor, Rev-erbα,  NCoR/histone deacetylase 3 (HDAC3),  coactivator PGC-1α, heme synthesis, cellular energy metabolism.

Histone Deacetylase Inhibitors and Neurodegenerative Disorders: Holding the Promise.

Curr Pharm Des. 2009 Sep 15:Antonello-Mai

Rotili D, Valente S, Kazantsev AG.
Harvard Medical School, Massachusetts General Hospital, CNY114 16th, Street, Charlestown, MA 02129, USA. akazantsev@partners.org.

Keywords: Neurodegenerative disorders (NDs), Huntington's disease, Alzheimer's disease, Parkinson disease, amyotrophic lateral sclerosis, spinal muscular atrophy, Friedreich's ataxia,  pathologic phenotype,   acetylation homeostasis,  histone acetyltransferase (HAT),  histone deacetylase (HDAC) , recent applications, HDAC inhibitors, HDAC/SIRT, CNS pathologies.