serine has been researched along with Sandhoff Disease in 3 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Sandhoff Disease: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the beta-subunit of beta-hexosaminidase A and B, resulting in ganglioside GM(2) accumulation in the brain." | 1.32 | Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. ( Bodennec, J; Buccoliero, R; Futerman, AH; Sandhoff, K; Van Echten-Deckert, G, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (66.67) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Buccoliero, R | 1 |
| Bodennec, J | 1 |
| Van Echten-Deckert, G | 1 |
| Sandhoff, K | 1 |
| Futerman, AH | 1 |
| Banerjee, P | 1 |
| Boyers, MJ | 1 |
| Berry-Kravis, E | 1 |
| Dawson, G | 1 |
| Hou, Y | 1 |
| McInnes, B | 1 |
| Hinek, A | 1 |
| Karpati, G | 1 |
| Mahuran, D | 1 |
3 other studies available for serine and Sandhoff Disease
| Article | Year |
|---|---|
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.
Topics: Animals; beta-N-Acetylhexosaminidases; Brain; Carbon Radioisotopes; CDPdiacylglycerol-Serine O-Phosp | 2004 |
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.
Topics: Adult; Alleles; Amino Acid Sequence; Animals; beta-N-Acetylhexosaminidases; Cell Line; Exons; Female | 1994 |
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Topics: Amino Acid Substitution; Animals; Base Sequence; beta-N-Acetylhexosaminidases; CHO Cells; Chronic Di | 1998 |