NeuroDNet - an open source platform for constructing and analyzing neurodegenerative disease networks

NeuroDNet - an open source platform for constructing and analyzing neurodegenerative disease networks. Suhas V Vasaikar, Aditya K Padhi, Bhyravabhotla Jayaram and James Gomes. BMC Neuroscience 2013, 14:3 doi:10.1186/1471-2202-14-3, Published: 3 January 2013

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It is in this light that we have created a database, NeuroDNet, that includes information about twelve neurodegenerative diseases - adrenomyeloneuropathy, Alzheimer disease, amyotrophic lateral sclerosis, ataxia-telangiectasia, dentatorubral-pallidoluysian atrophy, Friedreich ataxia, frontotemporal dementia, Huntington disease, Lewy body dementia, Parkinson disease, prion disease, progressive supranuclear palsy. It accounts for the interactions and regulation between signaling molecules, genes and proteins. This database is also the first of its kind, which enables the construction and analysis of NDDs through PPI, regulatory and Boolean networks. We also present the results of three case studies, which demonstrate the power of the analytical tools featured in NeuroDNet.

In Epigenomics, Location Is Everything: Researchers Exploit Gene Position to Test 'Histone Code'

In Epigenomics, Location Is Everything: Researchers Exploit Gene Position to Test 'Histone Code'. Menzies Chen, Katherine Licon, Rei Otsuka, Lorraine Pillussend, Trey Idekersend. Cell Reports, 03 January 2013

Also: Science News, Jan. 3, 2013,
Jan. 3, 2013 — In a novel use of gene knockout technology, researchers at the University of California, San Diego School of Medicine tested the same gene inserted into 90 different locations in a yeast chromosome -- and discovered that while the inserted gene never altered its surrounding chromatin landscape, differences in that immediate landscape measurably affected gene activity.

RNA-mediated toxicity in neurodegenerative disease

RNA-mediated toxicity in neurodegenerative disease. Veronique V. Belzil, Tania F. Gendron, Leonard Petrucelli. Molecular and Cellular Neuroscience, Available online 29 December 2012

Keywords: RNA processing, bidirectional transcription, RAN translation, RNA foci, neurodegenerative diseases, mouse models, non-coding repeat expansions.

ViroPharma is set to initiate VP20629 Phase II trial in the second half of 2013

ViroPharma is set to initiate VP20629 Phase II trial in the second half of 2013

ViroPharma: Strengthening Financial Profile & Pipeline Indicate Long-Term Upside, Ivan Deryugin, December 27, 2012

VP20629 is licensed from Intellect Neurosciences for the treatment of Friedreich’s Ataxia (FA), a rare neurodegenerative disease that affects about 1 in 50,000 people. Symptoms of FA include heart disease, speech problems, and gait disturbance. It is estimated that there are 6,000 FA patients here in the United States. Phase I data for VP20629 showed that the drug was well-tolerated at all dose levels, and ViroPharma is set to initiate a Phase II trial in the second half of 2013, and the company plans to file for orphan drug status once Phase II data is available

About VP 20629

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms . Hongqiao Li, Oleksandr Gakh, Douglas Y. Smith IV, Wasantha K Ranatunga and Grazia Isaya. J. Biol. Chem. jbc.M112.435263. First Published on December 26, 2012, doi:10.1074/jbc.M112.435263

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Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly. Florent Colin , Alain Martelli , Martin Clémancey , Jean-Marc Latour , Serge Gambarelli , Laura Zeppieri , Catherine Birck , Adeline Page , Hélène Puccio , and Sandrine Ollagnier de Choudens. J. Am. Chem. Soc., Just Accepted Manuscript, DOI: 10.1021/ja308736e. Publication Date (Web): December 22, 2012

Keywords: Fe-S clusters, cysteine desulfurase complex (NFS1/ISD11), frataxin (FXN), Freidreich’s ataxia, cysteine desulfurization, aconitase (mACO2).

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes. Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer T, Holl RW; Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association [2012, 120(10):579-585]

Keywords: genetic syndromes, diabetes mellitus (DM), frequency, treatment strategies, long-term complications, Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS), Down syndrome (DS).

USF researchers study medication that may help patients with incurable neuro-muscular disorder

USF researchers study medication that may help patients with incurable neuro-muscular disorder. abc ACTION NEWS; Thursday, December 20, 2012

“Currently there are no treatments or cures for Friedreich's Ataxia, but there's a possibility for a new drug that USF will be spearheading in the next month called EPI – 743"

Kinetics of the Triplex-Duplex Transition in DNA

Kinetics of the Triplex-Duplex Transition in DNA. Il-Buem Lee, Seok-Cheol Hong, Nam-Kyung Lee, Albert Johner; Biophysical Journal, Volume 103, Issue 12, 19 December 2012, Pages 2492-2501. http://dx.doi.org/10.1016/j.bpj.2012.10.029

Keywords: triplex folding/unfolding, metastable states.

Clarification: Conditions like FA involve triplex DNA structures that arise from tri nucleotide repeat expansions.

Heart Mitochondria: Receivers and Transmitters of Signals

Heart Mitochondria: Receivers and Transmitters of Signals. José Marín-García M.D.;
Mitochondria and Their Role in Cardiovascular Disease
2013, pp 157-181

Keywords: ATP, heart mitochondria, regulatory and signaling events, heart failure (HF), myocardial ischemia and reperfusion injury (IRI), hypoxia, oxidative stress (OS), hormonal and cytokine stimuli, interorganelle communication, hypertrophic growth, cell death, interrelated signaling pathways.