Academic Journal
An overview of molecular mechanisms in fabry disease
| العنوان: | An overview of molecular mechanisms in fabry disease |
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| المؤلفون: | Amodio, Federica, Caiazza, Martina, Monda, Emanuele, Rubino, Marta, Capodicasa, Laura, Chiosi, Flavia, Simonelli, Vincenzo, Dongiglio, Francesca, Fimiani, Fabio, Pepe, Nicola, Chimenti, Cristina, Calabrò, Paolo, Limongelli, Giuseppe |
| المساهمون: | Amodio, Federica, Caiazza, Martina, Monda, Emanuele, Rubino, Marta, Capodicasa, Laura, Chiosi, Flavia, Simonelli, Vincenzo, Dongiglio, Francesca, Fimiani, Fabio, Pepe, Nicola, Chimenti, Cristina, Calabrò, Paolo, Limongelli, Giuseppe |
| بيانات النشر: | MDPI Basel, Switzerland |
| سنة النشر: | 2022 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | fabry disease, GLA gene, biomarker, mutation, α-galactosidase A |
| الوصف: | Fabry disease (FD) (OMIM #301500) is a rare genetic lysosomal storage disorder (LSD). LSDs are characterized by inappropriate lipid accumulation in lysosomes due to specific enzyme deficiencies. In FD, the defective enzyme is alpha-galactosidase A (alpha-Gal A), which is due to a mutation in the GLA gene on the X chromosome. The enzyme deficiency leads to a continuous deposition of neutral glycosphingolipids (globotriaosylceramide) in the lysosomes of numerous tissues and organs, including endothelial cells, smooth muscle cells, corneal epithelial cells, renal glomeruli and tubules, cardiac muscle and ganglion cells of the nervous system. This condition leads to progressive organ failure and premature death. The increasing understanding of FD, and LSD in general, has led in recent years to the introduction of enzyme replacement therapy (ERT), which aims to slow, if not halt, the progression of the metabolic disorder. In this review, we provide an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/36291669; info:eu-repo/semantics/altIdentifier/wos/WOS:000872334500001; volume:12; issue:10; numberofpages:15; journal:BIOMOLECULES; https://hdl.handle.net/11573/1681150; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140430915 |
| DOI: | 10.3390/biom12101460 |
| الاتاحة: | https://hdl.handle.net/11573/1681150 https://doi.org/10.3390/biom12101460 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E0AC92EB |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/biom12101460 |
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