التفاصيل البيبلوغرافية
| العنوان: |
Inborn errors of the malate aspartate shuttle – Update on patients and cellular models |
| المؤلفون: |
Koch, Jasmine, Broeks, Melissa H., Gautschi, Matthias, Jans, Judith, Laemmle, Alexander |
| المساهمون: |
Genetica, Genetica Sectie Metabole Diagnostiek, Cancer, Brain, Child Health |
| سنة النشر: |
2024 |
| مصطلحات موضوعية: |
Endocrinology, Diabetes and Metabolism, Biochemistry, Molecular Biology, Genetics |
| الوصف: |
The malate aspartate shuttle (MAS) plays a pivotal role in transporting cytosolic reducing equivalents – electrons – into the mitochondria for energy conversion at the electron transport chain (ETC) and in the process of oxidative phosphorylation. The MAS consists of two pairs of cytosolic and mitochondrial isoenzymes (malate dehydrogenases 1 and 2; and glutamate oxaloacetate transaminases 1 and 2) and two transporters (malate-2-oxoglutarate carrier and aspartate glutamate carrier (AGC), the latter of which has two tissue-dependent isoforms AGC1 and AGC2). While the inner mitochondrial membrane is impermeable to NADH, the MAS forms one of the main routes for mitochondrial electron uptake by promoting uptake of malate. Inherited bi-allelic pathogenic variants in five of the seven components of the MAS have been described hitherto and cause a wide spectrum of symptoms including early-onset epileptic encephalopathy. This review provides an overview of reported patients suffering from MAS deficiencies. In addition, we give an overview of diagnostic procedures and research performed on patient-derived cellular models and tissues. Current cellular models are briefly discussed and novel ways to achieve a better understanding of MAS deficiencies are highlighted. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| تدمد: |
1096-7192 |
| Relation: |
https://dspace.library.uu.nl/handle/1874/454008 |
| الاتاحة: |
https://dspace.library.uu.nl/handle/1874/454008 |
| Rights: |
info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: |
edsbas.7010FC77 |
| قاعدة البيانات: |
BASE |