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TITLE: mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis  Full Text
AUTHORS: Santos, Juliana Ines; Goncalves, Mariana; Almeida, Matilde Barbosa; Rocha, Hugo; Duarte, Ana Joana; Matos, Liliana; Moreira, Luciana Vaz; Encarnacao, Marisa; Gaspar, Paulo; Prata, Maria Joao; Coutinho, Maria Francisca; Alves, Sandra;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients  Full Text
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnacao, Marisa; Ribeiro, Diogo; Almeida, Matilde Barbosa; Goncalves, Mariana; David, Hugo; Matos, Liliana; Amaral, Olga; Diogo, Luisa; Ferreira, Sara; Santos, Constanca; Martins, Esmeralda; Prata, Maria Joao ; de Almeida, Luis Pereira ; Alves, Sandra; Coutinho, Maria Francisca; ...More
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos; Esmeralda Martins; Maria João Prata ; Luís Pereira de Almeida; Sandra Alves; Maria Francisca Coutinho; ...More
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
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TITLE: Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease  Full Text
AUTHORS: David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura; Cardoso, Maria Teresa ; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnacao, Marisa;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
AUTHORS: Hammerschmidt, Tatiane Grazieli; Encarnacao, Marisa; Faverzani, Jessica Lamberty; Lopes, Franciele de Fatima; de Oliveira, Fabiano Poswar; de Sousa, Carolina Fischinger Moura; Ribeiro, Isaura; Alves, Sandra; Giugliani, Roberto; Vargas, Carmen Regla;
PUBLISHED: 2023, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 735
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
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TITLE: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step Towards Understanding and Treating Mucopolysaccharidoses
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho;
PUBLISHED: 2023
INDEXED IN: CrossRef: 1
IN MY: ORCID
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TITLE: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho;
PUBLISHED: 2023, SOURCE: Biomedicines, VOLUME: 11, ISSUE: 4
INDEXED IN: CrossRef
IN MY: ORCID
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TITLE: MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C
AUTHORS: Marisa Encarnação; Hugo David; Maria Francisca Coutinho; Luciana Moreira; Sandra Alves;
PUBLISHED: 2023, SOURCE: Biomedicines, VOLUME: 11, ISSUE: 10
INDEXED IN: CrossRef
IN MY: ORCID
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TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro ; Hugo David; Maria Francisca Coutinho; Dulce Quelhas ; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
INDEXED IN: CrossRef
IN MY: ORCID
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