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. ..
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. ..
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
Coutinho M, Santos J, Matos L, Alves S. Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders. Diseases. 2016;4: pubmed publisher