Sandra Alves

Summary

Country: Portugal

Publications

  1. Matos L, Duarte A, Ribeiro D, Chaves J, Amaral O, Alves S. Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy. Genes (Basel). 2018;9: pubmed publisher
    ..The insights detailed herein make mutation-based therapy a clear candidate for personalized treatment of ULD patients, encouraging similar investigations into other genetic diseases. ..
  2. Matos L, Canals I, Dridi L, Choi Y, Prata M, Jordan P, et al. Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. Orphanet J Rare Dis. 2014;9:180 pubmed publisher
    ..We have assayed two therapeutic strategies for different splicing mutations with promising results for the future applications. ..
  3. Coutinho M, Santos J, Alves S. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int J Mol Sci. 2016;17: pubmed publisher
    ..Here we review the concept of substrate reduction, highlighting the major breakthroughs in the field and discussing the future of SRT, not only as a monotherapy but also, especially, as complementary approach for LSDs. ..
  4. Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata M, Jordan P, et al. Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. Biochim Biophys Acta. 2015;1852:2712-21 pubmed publisher
  5. Ouesleti S, Coutinho M, Ribeiro I, Miled A, Mosbahi D, Alves S. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. World J Pediatr. 2017;13:374-380 pubmed publisher
    ..The results of this study will allow carrier detection in affected families and prenatal molecular diagnosis, leading to an improvement in genetic counseling. ..
  6. Coutinho M, Santos J, Alves S. Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065. Int J Mol Sci. 2017;18: pubmed publisher
    ..n/a. ..
  7. Coutinho M, Santos J, Matos L, Alves S. Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders. Diseases. 2016;4: pubmed publisher