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PMID:28327087
| Citation |
Elsaid, MF, Ibrahim, K, Chalhoub, N, Elsotouhy, A, El Mudehki, N and Abdel Aleem, A (2017) NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC Med. Genet. 18:33 |
|---|---|
| Abstract |
Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis. |
| Links |
PubMed PMC5359868 Online version:10.1186/s12881-017-0395-6 |
| Keywords |
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Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0006195: purine nucleotide catabolic process |
ECO:0000315: |
P |
Maintains homeostasis of purine/pyrimidine nucleotides located intracellularly. |
complete | ||||
Notes
See also
References
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