arginine and Sandhoff Disease

arginine has been researched along with Sandhoff Disease in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (66.67)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Alcocer-Gómez, E; Cachón-González, MB; Castejón-Vega, B; Cordero, MD; Cox, TM; Fernández-Domínguez, B; Lane, JD; Martín-Ruiz, C; Pérez-Pulido, AJ; Quiles, JL; Rubio, A; Sanz, A1
Hurwitz, R; Sandhoff, K; Schnabel, D; Schröder, M; Suzuki, K; Young, E1
Baas, F; Bikker, H; Bolhuis, PA; Ponne, NJ; Vianney de Jong, JM1

Other Studies

3 other study(ies) available for arginine and Sandhoff Disease

ArticleYear
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
    Cells, 2021, 11-11, Volume: 10, Issue:11

    Topics: Arginine; Autophagosomes; Autophagy; Cathepsins; Fibroblasts; Gangliosidoses, GM2; Hexosaminidase A; Hexosaminidase B; Humans; Lysosomes; Mutation; Permeability; Proto-Oncogene Proteins c-akt; Sandhoff Disease; Signal Transduction; Tay-Sachs Disease; TOR Serine-Threonine Kinases; Transcriptome

2021
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.
    Human genetics, 1993, Volume: 92, Issue:5

    Topics: Animals; Arginine; Base Sequence; Cell Line; Cricetinae; DNA Mutational Analysis; Female; G(M2) Activator Protein; Humans; Infant; Kidney; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Proline; Protein Processing, Post-Translational; Proteins; RNA, Messenger; Sandhoff Disease

1993
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
    Biochimica et biophysica acta, 1993, Sep-08, Volume: 1182, Issue:2

    Topics: Amino Acid Sequence; Arginine; Base Sequence; beta-N-Acetylhexosaminidases; Enzyme Stability; Glutamine; Humans; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Sandhoff Disease

1993