Associated Papers
Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.
Pande S et al.
Febs Letters, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Structural basis of aspartylglucosaminuria.
Saito S et al.
Biochemical and Biophysical Research Communications, 2008
Autoproteolytic activation of human aspartylglucosaminidase.
Saarela J et al.
The Biochemical Journal, 2004
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
Saarela J et al.
Human Molecular Genetics, 2001
A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.
Coulter-Mackie MB
Journal of Inherited Metabolic Disease, 1999
Select a paper to view details