Saturday, March 24, 2018

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

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F.-Nora Vögtle1, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W. Friederich, Susan M. White, Alice Basinger, Cansu Kücükköse, Hil...

Iron regulatory protein deficiency compromises mitochondrial function in murine embryonic fibroblasts

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Huihui Li, Hongting Zhao, Shuangying Hao, Longcheng Shang, Jing Wu, Chuanhui Song, Esther G. Meyron-Holtz, Tong Qiao & Kuanyu Li; Scient...
Tuesday, March 20, 2018

Frataxin overexpression in Müller cells protects retinal ganglion cells in a mouse model of ischemia/reperfusion injury in vivo

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Rowena Schultz, Melanie Krug, Michel Precht, Stefanie G. Wohl, Otto W. Witte & Christian Schmeer; Scientific Reports, volume 8, Article ...
Monday, March 19, 2018

Genetic Infiltrative Cardiomyopathies

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Mary E. Sweet, Luisa Mestroni, Matthew R.G. Taylor, Heart Failure Clinics, Volume 14, Issue 2, April 2018, Pages 215-224, ISSN 1551-7136, do...
Sunday, March 18, 2018

Resting-state connectivity in neurodegenerative disorders: Is there potential for an imaging biomarker?

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Christian Hohenfeld, Cornelius J. Werner, Kathrin Reetz, NeuroImage: Clinical, Available online 16 March 2018, ISSN 2213-1582, doi:10.1016/...

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

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Michael H Parkinson, Ana P Bartmann, Lisa M S Clayton, Suran Nethisinghe, Rolph Pfundt, J Paul Chapple, Mary M Reilly, Hadi Manji, Nicholas ...
Saturday, March 17, 2018

Distinct effects of frataxin missence point mutations on mitochondrial localization, protein processing, and cellular metabolism

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Clark, Elisia M., University of Pennsylvania, Philadelphia, PA, United States National Institute of Health (NIH), National Institute of Neu...

Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly

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ai Cai, Ronnie O. Frederick, Marco Tonelli, John L. Markley, Journal of Inorganic Biochemistry, Available online 15 March 2018, ISSN 0162-01...
Thursday, March 15, 2018

Biomarcadores epigenéticos: hacia su implantación en la rutina clínica / Epigenetic biomarkers: towards their incorporation into clinical routine

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José Luis García-Giménez, Gisselle Pérez-Machado, Jesús Beltrán-García, Eva García-López, Ester Berenguer-Pascual, Carlos Romá-Mateo, Federi...
Wednesday, March 14, 2018

Large-scale computational drug repositioning to find treatments for rare diseases

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Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine & Michal Brylinski. npj Systems Biology and Applications 4, Artic...