Hexosaminidase C in brain affected by Tay-Sachs disease.
نویسندگان
چکیده
منابع مشابه
Hexosaminidase A in amniotic fluid of Tay-Sachs fetuses.
Hexosaminidase A is present in relatively low concentrations in cell-free amniotic fluids from pregnancies with Tay-Sachs fetuses. This isoenzyme was determined by an immunological procedure, radial immunodiffusion, by which hexosaminidase A can be directly and specifically detected, even in the presence of excess amounts of hexosaminidase B. No hexosaminidase A could be detected by the same pr...
متن کاملAutomated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs disease heterozygotes.
We have automated a manual test for detection of heterozygotes of Tay-Sachs disease by assay of hexosaminidase A in serum, based on pH inactivation [C/in. Chim. Acta 43, 417 (1973)]. The same manifold is used both for the total hexosaminidase and pH-inactivation (hexosaminidase B) procedures. Automation expedites mass screening of the Ashkenazi Jewish population for carriers of the TaySachs gen...
متن کاملTay-Sachs Disease
In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...
متن کاملAdenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
The severe neurodegenerative disorder, Tays-Sachs disease, is caused by a beta-hexosaminidase alpha-subunit deficiency which prevents the formation of lysosomal heterodimeric alpha-beta enzyme, hexosaminidase A (HexA). No treatment is available for this fatal disease; however, gene therapy could represent a therapeutic approach. We previously have constructed and characterized, in vitro, adenov...
متن کاملLate-onset Tay-Sachs disease.
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical defici...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1981
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.133.175