مورد إلكتروني
Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model
| العنوان: | Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model |
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| المؤلفون: | Santi, L, De Ponti, G, Dina, G, Pievani, A, Corsi, A, Riminucci, M, Khan, S, Sawamoto, K, Antolini, L, Gregori, S, Annoni, A, Biondi, A, Quattrini, A, Tomatsu, S, Serafini, M, Santi L., De Ponti G., Dina G., Pievani A., Corsi A., Riminucci M., Khan S., Sawamoto K., Antolini L., Gregori S., Annoni A., Biondi A., Quattrini A., Tomatsu S., Serafini M. |
| بيانات النشر: | Academic Press Inc. 2020 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Mucopolysaccharidosis type I (MPS-I), a lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase enzyme, results in the progressive accumulation of glycosaminoglycans and consequent multiorgan dysfunction. Despite the effectiveness of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) in correcting clinical manifestations related to visceral organs, complete improvement of musculoskeletal and neurocognitive defects remains an unmet challenge and provides an impact on patients' quality of life. We tested the therapeutic efficacy of combining HSCT and ERT in the neonatal period. Using a mouse model of MPS-I, we demonstrated that the combination therapy improved clinical manifestations in organs usually refractory to current treatment. Moreover, combination with HSCT prevented the production of anti-IDUA antibodies that negatively impact ERT efficacy. The added benefits of combining both treatments also resulted in a reduction of skeletal anomalies and a trend towards decreased neuroinflammation and metabolic abnormalities. As currently there are limited therapeutic options for MPS-I patients, our findings suggest that the combination of HSCT and ERT during the neonatal period may provide a further step forward in the treatment of this rare disease. |
| مصطلحات الفهرس: | Combination approach, Early treatment, ERT, HSCT, Mucopolysaccharidosis type I, info:eu-repo/semantics/article |
| URL: | info:eu-repo/semantics/altIdentifier/pmid/32439268 info:eu-repo/semantics/altIdentifier/wos/WOS:000539407700008 volume:130 issue:3 firstpage:197-208 lastpage:208 journal:MOLECULAR GENETICS AND METABOLISM |
| الإتاحة: | Open access content. Open access content |
| ملاحظة: | English |
| أرقام أخرى: | ITBAO oai:boa.unimib.it:10281/277423 10.1016/j.ymgme.2020.05.001 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084730377 1308933827 |
| المصدر المساهم: | BICOCCA OPEN ARCH From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1308933827 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |