Results 161 to 170 of about 2,313 (194)

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

American journal of human genetics, 1977
A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B.
J C, Dreyfus, L, Poenaru, M, Vibert, N, Ravise, J, Boue   +4 more
openaire   +1 more source

Crystallization of human β-hexosaminidase B

Journal of Molecular Biology, 1992
beta-Hexosaminidase is a lysosomal hydrolase that is important in the metabolism of sphingoglycolipids. beta-Hexosaminidase B and beta-hexosaminidase A are the major isozymes in normal human tissue. beta-Hexosaminidase B is a homodimer of beta subunits, and beta-hexosaminidase A is a heterodimer composed of an alpha and a beta subunit. Crystals of beta-
W B, Church, L, Swenson, M N, James, D, Mahuran   +3 more
openaire   +2 more sources

Structural comparison of hexosaminidases in primates

Comparative Biochemistry and Physiology Part B: Comparative Biochemistry, 1979
1. beta-Hexosaminidase (hex) structure was compared in various primates, using thin-layer isoelectric focusing on polyacrylamide gels and quantitative microcomplement fixation. 2. Isoelectric focusing revealed no intraspecies differences and similar interspecies patterns. 3.
J E, Lee, A, Yoshida, I K, Brandt
openaire   +2 more sources

Late‐onset Hexosaminidase A and Hexosaminidase A and B Deficiency: Family Study and Review

Developmental Medicine & Child Neurology, 1986
SUMMARYFive children from two non‐consanguineous Asian families with juvenile‐onset hexosaminidase deficiency are presented. Two have juvenile Tay‐Sachs disease with hexosaminidase A deficiency and three have juvenile Sandhoff disease with hexosaminidase A and B deficiency.
C, Adams, S, Green
openaire   +2 more sources

The Clinical Aspects of Adult Hexosaminidase Deficiencies

Developmental Neuroscience, 1991
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies.
Federico, A., Palmeri, S., Malandrini, A., Fabrizi, G., Mondelli, M., Guazzi, G. C.   +5 more
openaire   +4 more sources

[Genetic control of hexosaminidases].

Archives francaises de pediatrie, 1978
The authors present the results they obtained which interspecific cell hybrids. The hexosaminidases A, B and C, seem to be under the control of the two genes alpha and beta, B and CS constituing homopolymers (beta beta)n and (alpha alpha)n, A being a heteropolymer (alpha beta)n.
N, Van Cong, J, Frézal, D, Weil
openaire   +1 more source

The lysosomal hexosaminidase isozymes.

Isozymes, 1985
In the 15 years since the demonstration that HEX A is the defective enzyme in patients with TSD, intensive efforts in many laboratories have revealed much about the HEX group of enzymes. In contradistinction to the two isozymes described by Robinson and Stirling [1968], we now know that there are several different species.
D, Mahuran, A, Novak, J A, Lowden
openaire   +1 more source

A fluorescent probe for bioimaging of Hexosaminidases activity and exploration of drug-induced kidney injury in living cell

Talanta, 2021
Xiaoyan Liu, Haixia Zhang
exaly  

Human hexosaminidase isozymes

American Journal of Obstetrics and Gynecology, 1979
Harold M. Nitowsky, Joyce Davis, Sachiko Nakagawa, David Fox   +3 more
openaire   +1 more source

[Hexosaminidase].

Nihon rinsho. Japanese journal of clinical medicine, 1999
S, Ishii, N, Sakuragawa
openaire   +1 more source