Concepedia

Molecular basis of an adult form of Sandhoff disease: Substitution of glutamine for arginine at position 505 of the β-chain of β-hexosaminidase results in a labile enzyme

Pieter A. Bolhuis, Nico J. Ponne, Hennie Bikker, Frank Baas, J.M.B.V. de Jong

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1993 · 31 citations · 27 references

DOI

Concepts

References

27

A simple method for displaying the hydropathic character of a protein

Jack Kyte, Russell F. Doolittle · Journal of Molecular Biology · 1982 · 23.1K citations

, , +12

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations

, , +12

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

, , +13

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

Robert G. Korneluk, Don J. Mahuran, Kuldeep Neote et al. · Journal of Biological Chemistry · 1986 · 177 citations · Full text

, , +13

Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase

Elizabeth F. Neufeld · Journal of Biological Chemistry · 1989 · 155 citations · Full text

, , +15