Concepedia

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Fanny Mochel, Melanie A. Knight, Wing‐Hang Tong, Dena Hernández, Karen Ayyad, Tanja Taivassalo, Peter M. Andersen, Andrew Singleton, Tracey A. Rouault, Kenneth H. Fischbeck,

The American Journal of Human Genetics · 2008 · 212 citations · 27 references

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27

Lamin A-Dependent Nuclear Defects in Human Aging

Paola Scaffidi, Tom Misteli · Science · 2006 · 1.2K citations · Full text

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Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Agnès Rötig, Pascale de Lonlay, Dominique Chrétien et al. · Nature Genetics · 1997 · 991 citations

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Distinct Binding Specificities and Functions of Higher Eukaryotic Polypyrimidine Tract-Binding Proteins

Ravinder Singh, Juan Valcárcel, Michael R. Green · Science · 1995 · 541 citations

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Alternative splicing in disease and therapy

Mariano A. García-Blanco, Andrew P. Baraniak, Erika Lasda · Nature Biotechnology · 2004 · 529 citations

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IscU as a Scaffold for Iron−Sulfur Cluster Biosynthesis:  Sequential Assembly of [2Fe-2S] and [4Fe-4S] Clusters in IscU

Jeffrey N. Agar, Carsten Krebs, Jeverson Frazzon et al. · Biochemistry · 2000 · 426 citations

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