proline and Adult Sandhoff Disease

proline has been researched along with Adult Sandhoff Disease in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	2 (100.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Hurwitz, R; Sandhoff, K; Schnabel, D; Schröder, M; Suzuki, K; Young, E	1
Hinek, A; Hou, Y; Karpati, G; Mahuran, D; McInnes, B	1

Other Studies

2 other study(ies) available for proline and Adult Sandhoff Disease

Article	Year
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
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. The Journal of biological chemistry, 1998, Aug-14, Volume: 273, Issue:33 Topics: Amino Acid Substitution; Animals; Base Sequence; beta-N-Acetylhexosaminidases; CHO Cells; Chronic Disease; Cricetinae; DNA Primers; G(M2) Ganglioside; Heterozygote; Hexosaminidase A; Hexosaminidase B; Homozygote; Humans; Hydrolysis; Proline; Sandhoff Disease; Serine	1998

Article

Year

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

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

The Journal of biological chemistry, 1998, Aug-14, Volume: 273, Issue:33

Topics: Amino Acid Substitution; Animals; Base Sequence; beta-N-Acetylhexosaminidases; CHO Cells; Chronic Disease; Cricetinae; DNA Primers; G(M2) Ganglioside; Heterozygote; Hexosaminidase A; Hexosaminidase B; Homozygote; Humans; Hydrolysis; Proline; Sandhoff Disease; Serine

1998