Structural and biochemical basis for the pathogenic mutations of methylmalonate semialdehyde dehydrogenase ALDH6A1
Background: Methylmalonate semialdehyde dehydrogenase (ALDH6A1), encoded by the ALDH6A1 gene, is essential for the metabolic degradation of valine and thymine. Genetic alterations in ALDH6A1 lead to methylmalonate semialdehyde dehydrogenase deficiency (MMSDD), a rare disease with only five reported...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2024-12-01
|
| Series: | Medicine Plus |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950347724000525 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|