Page last updated: 2024-10-18

glycine and Tay-Sachs Disease

glycine has been researched along with Tay-Sachs Disease in 4 studies

Tay-Sachs Disease: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19901 (25.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
GEROK, W1
PABST, K1
Lemieux, MJ1
Mark, BL1
Cherney, MM1
Withers, SG1
Mahuran, DJ2
James, MN1
Brown, CA1
Trop, I1
Kaplan, F1
Brown, C1
Mahuran, D1
Hechtman, P1

Reviews

1 review available for glycine and Tay-Sachs Disease

ArticleYear
[ON THE PATHOPHYSIOLOGY AND CLINICAL MANIFESTATIONS OF DISORDERS OF RENAL TUBULAR PARTIAL FUNCTION].
    Munchener medizinische Wochenschrift (1950), 1965, Jan-08, Volume: 107

    Topics: Acidosis; Acidosis, Renal Tubular; Amino Acids; Cystinuria; Diabetes Insipidus; Glycine; Glycosuria;

1965

Other Studies

3 other studies available for glycine and Tay-Sachs Disease

ArticleYear
Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
    Journal of molecular biology, 2006, Jun-16, Volume: 359, Issue:4

    Topics: Acetylglucosamine; Amino Acid Substitution; Arginine; Aspartic Acid; beta-N-Acetylhexosaminidases; B

2006
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
    American journal of human genetics, 1993, Volume: 53, Issue:2

    Topics: Adult; Animals; Base Sequence; beta-N-Acetylhexosaminidases; Blotting, Western; Cells, Cultured; Chr

1993
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
    Human mutation, 1992, Volume: 1, Issue:1

    Topics: Amino Acid Sequence; Animals; Aspartic Acid; Base Sequence; beta-N-Acetylhexosaminidases; Canada; Ce

1992