CIDeRplusGeneral Information:
| Id: | 8,444 (click here to show other Interactions for entry) |
| Diseases: |
Methylmalonic aciduria
|
| Homo sapiens | |
| article | |
| Reference: | Caterino M et al.(2015) The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans J. Inherit. Metab. Dis. 38: 969-979 [PMID: 25585586] |
Interaction Information:
| Comment | Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. The in-vivo proteome of control and MMACHC lymphocytes (obtained from patients under standard treatment with OHCbl, betaine, folate and L-carnitine) was quantitatively examined by two dimensional differential in-gel electrophoresis (2D-DIGE) and mass spectrometry. Twenty three proteins were found up-regulated and 38 proteins were down-regulated. |
|
Formal Description Interaction-ID: 86150 |
increases_expression of gene/protein |