Loss of function mechanism in aprataxin-related early-onset ataxia
- 17 September 2004
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 322 (2) , 380-386
- https://doi.org/10.1016/j.bbrc.2004.07.135
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemiaNeuroscience Letters, 2004
- Aprataxin, a novel protein that protects against genotoxic stressHuman Molecular Genetics, 2004
- Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair proteinAnnals of Neurology, 2004
- Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studiesBrain, 2003
- Listening to silence and understanding nonsense: exonic mutations that affect splicingNature Reviews Genetics, 2002
- PRODUCTION OF A BIOLOGICALLY ACTIVE HUMAN INTERLEUKIN 18 REQUIRES ITS PRIOR SYNTHESIS AS PRO-IL-18Cytokine, 2000
- Multiple Transcripts of the Human Cu,Zn Superoxide Dismutase GeneBiochemical and Biophysical Research Communications, 2000
- Dominant negative effect of GTP cyclohydrolase I mutations in dopa‐responsive hereditary progressive dystoniaAnnals of Neurology, 1998
- Factor Xa cleavage of fusion proteinsFEBS Letters, 1990
- Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomesCell, 1986