The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA.

The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA. Chan PK, Khadayate S; Gene Expression Omnibus (GEO). Public on Apr 03, 2013

Citation: Chan PK, Torres R, Yandim C, Law PP et al. Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3. Hum Mol Genet 2013 Mar 26. PMID: 2347481

Genetic and phenotypic variability of optic neuropathies.

Genetic and phenotypic variability of optic neuropathies. Neuhann T, Rautenstrauss B.; Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19.

Keywords: Hereditary optic neuropathies, heterogeneous disorders, autosomal dominant, autosomal recessive, X-linked recessive, Leber's hereditary optic neuropathy, Kjer's disease, mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's ataxia, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses, brain iron accumulation.

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies . Aurélien Bayot, Sacha Reichman, Sophie Lebon, Zsolt Csaba, Laetitia Aubry, Ghislaine Sterkers, Isabelle Husson, Malgorzata Rak, Pierre Rustin; Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt144 First published online: April 2, 2013.

KEYWORDS: Friedreich's ataxia (FRDA), intronic expansion of GAA triplet repeats, FXN locus, mitochondrial frataxin, profound cytoskeleton anomalies, PIP5K1B gene, phosphatidylinositol 4-phosphate 5-kinase β type I (pip5k1β), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2), actin network.

The role of palliative care in patients with neurological diseases

The role of palliative care in patients with neurological diseases. Gian Domenico Borasio; Nature Reviews Neurology ,doi:10.1038/nrneurol.2013.49

Keywords:Palliative care, quality of life, life-threatening illness, neurological disorders, daily clinical practice.

Trinucleotide repeat expansions catalyzed by human cell-free extracts

Trinucleotide repeat expansions catalyzed by human cell-free extracts. Jennifer R Stevens, Elaine E Lahue, Guo-Min Li and Robert S Lahue. Cell Research (2013) 23:565–572. doi:10.1038/cr.2013.12; published online 22 January 2013

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A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients.

A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients. Dr Roberto Testi, Universita’ di Roma Tor Vergata, Italy.

New research project

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases. Jacques P Tremblay, Xiao Xiao, Annemieke Aartsma-Rus, Carlos Barbas, Helen M Blau, Adam J Bogdanove, Kym Boycott, Serge Braun, Xandra O Breakefield, Juan A Bueren, Michael Buschmann, Barry J Byrne, Michele Calos, Toni Cathomen, Jeffrey Chamberlain, Marinee Chuah, Kenneth Cornetta, Kay E Davies, J George Dickson, Philippe Duchateau, Terence R Flotte, Daniel Gaudet, Charles A Gersbach, Renald Gilbert, Joseph Glorioso, Roland W Herzog, Katherine A High, Wenlin Huang, Johnny Huard, J Keith Joung, Depei Liu, Dexi Liu, Hanns Lochmüller, Lawrence Lustig, Jeffrey Martens, Bernard Massie, Fulvio Mavilio, Jerry R Mendell, Amit Nathwani, Katherine Ponder, Matthew Porteus, Jack Puymirat, Jude Samulski, Shin’ichi Takeda, Adrian Thrasher, Thierry VandenDriessche, Yuquan Wei, James M Wilson, Steve D Wilton, John H Wolfe and Guangping Gao; Molecular Therapy (2013); 21 2, 266–268. doi:10.1038/mt.2013.4

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Jacques P Tremblay, Centre de Recherche du CHU and Department of Molecular Medicine, Université Laval, Quebec, Quebec, Canada, is working on gene therapy and protein replacement therapy in Friedreich's ataxia since long time.

See also: Translating the Genomics Revolution . (Jacques P Tremblay)

Emery and Rimoin's Principles and Practice of Medical Genetics

Chapter 23- Diagnostic Molecular Genetics. Wayne W. Grody, Joshua L. Deignan; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-31. http://dx.doi.org/10.1016/B978-0-12-383834-6.00030-6

FIGURE 23-9. PCR analysis of Friedreich ataxia GAA trinucleotide repeat expansion. Arrow indicates the size of PCR products generated from normal alleles. The samples shown are 1, normal; 2, homozygous expanded; and 3, heterozygous.

Chapter 101 – Iron Metabolism and Related Disorders. Kaveh Hoda, Christopher L. Bowlus, Thomas W. Chu, Jeffrey R. Gruen; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-41. http://dx.doi.org/10.1016/B978-0-12-383834-6.00106-3


Chapter 118 – The Hereditary Ataxias. Puneet Opal, Huda Zoghbi; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-32. http://dx.doi.org/10.1016/B978-0-12-383834-6.00125-7

Hereditary ataxias: overview.

Hereditary ataxias: overview. Jayadev S, Bird TD; Genet Med advance online publication 28 March 2013 Genetics in Medicine (2013); doi:10.1038/gim.2013.28.

Keywords: highly heterogeneous group, gait ataxia, incoordination of eye movements, speech, and hand movements, atrophy of the cerebellum, spinocerebellar ataxia, Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, ataxia with oculomotor apraxia type 2, ataxia with vitamin E deficiency, cerebrotendinous xanthomatosis, Refsum, coenzyme Q10 deficiency.

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia. Sirena Soriano, José V. Llorens, Laura B. Sobero, Lucía Gutiérrez, Pablo Calap-Quintana, M. Puerto Morales, M. Dolores Moltó, M. José Martínez-Sebastián. Gene, Available online 28 March 2013.

Keywords: Frataxin, aconitase, mitochondria, oxidative stress, life span, climbing capability