A Frameshift Mutation in a Patient with Tay-Sachs Disease Causes Premature Termination and Defective Intracellular Transport of the α-Subunit of β-Hexosaminidase
Open Access
- 1 December 1989
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 264 (35), 21376-21380
- https://doi.org/10.1016/s0021-9258(19)30090-0
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis VariantJournal of Neurochemistry, 1988
- Degradation from the endoplasmic reticulum: Disposing of newly synthesized proteinsCell, 1988
- Identification of an altered splice site in Ashkenazi Tay-Sachs diseaseNature, 1988
- A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs diseaseBiochemical and Biophysical Research Communications, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- A C-terminal signal prevents secretion of luminal ER proteinsCell, 1987
- Expression of wild-type and mutant forms of influenza hemagglutinin: The role of folding in intracellular transportCell, 1986
- Different Mutations in Ashkenazi Jewish and Non-Jewish French Canadians with Tay-Sachs DiseaseScience, 1986
- Biosynthesis and intracellular sorting of growth hormone-viral envelope glycoprotein hybrids.The Journal of cell biology, 1985
- A simple method for displaying the hydropathic character of a proteinJournal of Molecular Biology, 1982