التفاصيل البيبلوغرافية
| العنوان: |
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities |
| المؤلفون: |
Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara, Pasquale Striano, Anna Fassio |
| المصدر: |
Cells, Vol 13, Iss 17, p 1441 (2024) |
| بيانات النشر: |
MDPI AG, 2024. |
| سنة النشر: |
2024 |
| المجموعة: |
LCC:Cytology |
| مصطلحات موضوعية: |
v-ATPse, lysosomal dysfunction, neurodevelopmental disorders, neurodegeneration, Cytology, QH573-671 |
| الوصف: |
Vacuolar-type ATPase (v-ATPase) is a multimeric protein complex that regulates H+ transport across membranes and intra-cellular organelle acidification. Catabolic processes, such as endocytic degradation and autophagy, strictly rely on v-ATPase-dependent luminal acidification in lysosomes. The v-ATPase complex is expressed at high levels in the brain and its impairment triggers neuronal dysfunction and neurodegeneration. Due to their post-mitotic nature and highly specialized function and morphology, neurons display a unique vulnerability to lysosomal dyshomeostasis. Alterations in genes encoding subunits composing v-ATPase or v-ATPase-related proteins impair brain development and synaptic function in animal models and underlie genetic diseases in humans, such as encephalopathies, epilepsy, as well as neurodevelopmental, and degenerative disorders. This review presents the genetic and functional evidence linking v-ATPase subunits and accessory proteins to various brain disorders, from early-onset developmental epileptic encephalopathy to neurodegenerative diseases. We highlight the latest emerging therapeutic strategies aimed at mitigating lysosomal defects associated with v-ATPase dysfunction. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2073-4409 |
| Relation: |
https://www.mdpi.com/2073-4409/13/17/1441; https://doaj.org/toc/2073-4409 |
| DOI: |
10.3390/cells13171441 |
| URL الوصول: |
https://doaj.org/article/32f60c75283e4f658502a0b8b17a6da6 |
| رقم الانضمام: |
edsdoj.32f60c75283e4f658502a0b8b17a6da6 |
| قاعدة البيانات: |
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