Concepedia

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova, Joy Irobi, Florian P. Thomas, Patrick Van Dijck, Kris Meerschaert, Maarten Dewil, Ines Dierick, An Jacobs, Els De Vriendt, Velina Guergueltcheva,

Nature Genetics · 2006 · 376 citations · 26 references

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26

Sequential Treatment of SH‐SY5Y Cells with Retinoic Acid and Brain‐Derived Neurotrophic Factor Gives Rise to Fully Differentiated, Neurotrophic Factor‐Dependent, Human Neuron‐Like Cells

Mario Encinas, Montse Iglesias, Yuhui Liu et al. · Journal of Neurochemistry · 2000 · 826 citations

, , +16

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 566 citations · Full text

, , +11

Two Distinct Cytokines Released from a Human Aminoacyl-tRNA Synthetase

Keisuke Wakasugi, Paul Schimmel · Science · 1999 · 494 citations

, , +17

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Stephan Züchner, Maher Noureddine, Marina Kennerson et al. · Nature Genetics · 2005 · 361 citations

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Redesigning enzyme structure by site-directed mutagenesis: tyrosyl tRNA synthetase and ATP binding

Greg Winter, Alan R. Fersht, Anthony J. Wilkinson et al. · Nature · 1982 · 356 citations

, , +17