Concepedia

Loss of function mechanism in aprataxin-related early-onset ataxia

Makito Hirano, Yoshiko Furiya, Shingo Kariya, Tomohisa Nishiwaki, Satoshi Ueno

Biochemical and Biophysical Research Communications · 2004 · 15 citations · 23 references

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23

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

Marilyn Kozak · Cell · 1986 · 4.9K citations

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Maria-Céu Moreira, Clara Barbot, Nobutada Tachi et al. · Nature Genetics · 2001 · 434 citations

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Hidetoshi Date, Osamu Onodera, Hajime Tanaka et al. · Nature Genetics · 2001 · 384 citations

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The Protein Kinase CK2 Facilitates Repair of Chromosomal DNA Single-Strand Breaks

Joanna I. Loizou, Sherif F. El‐Khamisy, Anastasia Zlatanou et al. · Cell · 2004 · 329 citations · Full text

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Hint, Fhit, and GalT:  Function, Structure, Evolution, and Mechanism of Three Branches of the Histidine Triad Superfamily of Nucleotide Hydrolases and Transferases

Charles Brenner · Biochemistry · 2002 · 282 citations

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