Scientific Literature

Dec 31, 2012

The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes

M. Cnop MD PhD, M. Igoillo-Esteve PhD, M. Rai PhD, A. Begu MD, Y. Serroukh MD, C. Depondt MD PhD, A. E. Musuaya, I. Marhfour PhD, L. Ladrière PhD, X. Moles Lopez, D. Lefkaditis PhD, F. Moore PhD, J.-P. Brion MD PhD, J M. Cooper MD PhD, A. H. V. Schapira MD PhD, A. Clark PhD, A. H. Koeppen MD, P. Marchetti MD PhD, M. Pandolfo MD PhD, D. L Eizirik MD PhD, F. Féry MD PhD , Annals of neurology , DOI: 10.1002/ana.23698
Objective: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused in almost all cases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene. Frataxin is a mitochondrial protein involved in iron homeostasis. FRDA patients have a high prevalence of diabetes, the pathogenesis of which is not...
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Dec 7, 2012

p27Kip1 Directly Represses Sox2 during Embryonic Stem Cell Differentiation

H. Li, M. Collado, A. Villasante, A. Matheu, C. J. Lynch, M. Cañamero, K. Rizzoti, C. Carneiro, G. Martínez, A. Vidal, R. Lovell-Badge, M. Serrano , Cell Stem Cell , DOI: 10.1016/j.stem.2012.09.01
The mechanisms responsible for the transcriptional silencing of pluripotency genes in differentiated cells are poorly understood. We have observed that cells lacking the tumor suppressor p27 can be reprogrammed into induced pluripotent stem cells (iPSCs) in the absence of ectopic Sox2. Interestingly, cells and tissues from p27 null mice, including...
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Nov 29, 2012

Neutrophil-derived IL-1β Is Sufficient for Abscess Formation in Immunity against Staphylococcus aureus in Mice

Cho JS, Guo Y, Ramos RI, Hebroni F, Plaisier SB, Xuan C, Granick JL, Matsushima H, Takashima A, Iwakura Y, Cheung AL, Cheng G, Lee DJ, Simon SI, Miller LS , PLoS Pathogens , Volume 8, Issue 11, e1003047
Neutrophil abscess formation is critical in innate immunity against many pathogens. Here, the mechanism of neutrophil abscess formation was investigated using a mouse model of Staphylococcus aureus cutaneous infection. Gene expression analysis and in vivo multispectral noninvasive imaging during the S. aureus infection revealed a strong functional and temporal association...
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Nov 18, 2012

TRPM4 cation channel mediates axonal and neuronal degeneration in experimental autoimmune encephalomyelitis and multiple sclerosis

B. Schattling, K. Steinbach, E. Thies, M. Kruse, A. Menigoz, F. Ufer, V. Flockerzi, W. Brück, O. Pongs, R. Vennekens, M. Kneussel, M. Freichel, D. Merkler, M. A. Friese , Nature Medicine , DOI: 10.1038/nm.3015
In multiple sclerosis, an inflammatory disease of the central nervous system (CNS), axonal and neuronal loss are major causes for irreversible neurological disability. However, which molecules contribute to axonal and neuronal injury under inflammatory conditions remains largely unknown. Here we show that the transient receptor potential melastatin 4 (TRPM4) cation...
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Sep 28, 2012

DNA repair and replication proteins as prognostic markers in melanoma

L. Song, T. Robson, T. Doig, T. Brenn, M. Mathers, E. R. Brown, V. Doherty, J. M. Bartlett, N. Anderson, D. W. Melton , Histopathology , DOI: 10.1111/j.1365-2559.2012.04362.x
Elevated expression of DNA repair and replication genes has been reported in thick, non-fixed primary melanomas that subsequently went on to metastasize, when compared to non-recurrent primary tumours. This increased expression could contribute to the extreme resistance shown by melanoma to DNA-damaging chemotherapeutics. We have investigated the hypothesis that levels...
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