التفاصيل البيبلوغرافية
| العنوان: |
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann–Pick disease type C |
| المؤلفون: |
Platt, Frances M. |
| المصدر: |
Biochemical Society Transactions ; volume 51, issue 5, page 1777-1787 ; ISSN 0300-5127 1470-8752 |
| بيانات النشر: |
Portland Press Ltd. |
| سنة النشر: |
2023 |
| الوصف: |
Lysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to ‘storage’. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipated links to other rare and common human diseases using Niemann–Pick disease type C as an example. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1042/bst20220711 |
| DOI: |
10.1042/BST20220711/951276/bst-2022-0711c.pdf |
| الإتاحة: |
https://doi.org/10.1042/bst20220711Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.F1602974 |
| قاعدة البيانات: |
BASE |
