Concepedia

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

Seyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres‐Benito, Raphael H. Rastetter, Kristina Hupperich, Andrea Hoffmann, Natalia Mendoza-Ferreira, Anna Kaczmarek, Eva Janzen, Janine Milbradt,

The American Journal of Human Genetics · 2016 · 166 citations · 68 references

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68

Universal sample preparation method for proteome analysis

Jacek R. Wiśniewski, Alexandre Zougman, Nagarjuna Nagaraj et al. · Nature Methods · 2009 · 8.7K citations

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Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

Donald B. Smith, Kevin S. Johnson · Gene · 1988 · 6K citations

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Protocol for micro-purification, enrichment, pre-fractionation and storage of peptides for proteomics using StageTips

Juri Rappsilber, Matthias Mann, Yasushi Ishihama · Nature Protocols · 2007 · 4.9K citations

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Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

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A single nucleotide in the <i>SMN</i> gene regulates splicing and is responsible for spinal muscular atrophy

Christian L. Lorson, Eric Hahnen, Elliot J. Androphy et al. · Proceedings of the National Academy of Sciences · 1999 · 1.5K citations

, , +17