tyrosine and Sandhoff Disease

tyrosine has been researched along with Sandhoff Disease in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Itoh, K; Kuroki, Y; Nadaoka, Y; Sakuraba, H; Tanaka, T1
Banerjee, P; Berry-Kravis, E; Boyers, MJ; Dawson, G1

Other Studies

2 other study(ies) available for tyrosine and Sandhoff Disease

ArticleYear
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
    Biochemical and biophysical research communications, 1995, Jul-17, Volume: 212, Issue:2

    Topics: Base Sequence; beta-N-Acetylhexosaminidases; Codon; Consanguinity; Conserved Sequence; Cysteine; DNA Mutational Analysis; Female; Fibroblasts; Fluorescent Antibody Technique; G(M2) Ganglioside; Humans; Infant; Japan; Molecular Sequence Data; Mutation; Protein Structure, Secondary; Sandhoff Disease; Tyrosine

1995
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
    The Journal of biological chemistry, 1994, Feb-18, Volume: 269, Issue:7

    Topics: Adult; Alleles; Amino Acid Sequence; Animals; beta-N-Acetylhexosaminidases; Cell Line; Exons; Female; Genetic Carrier Screening; Hexosaminidase A; Hexosaminidase B; Humans; Macromolecular Substances; Male; Motor Neuron Disease; Point Mutation; Protein Structure, Secondary; Sandhoff Disease; Serine; Transfection; Tyrosine

1994