Coutinho Maria Francisca相关文献与解析，生知库

Monteiro, Beatriz; Peixoto, Maria Inês; Ortigoza-Escobar, Juan Darío; Alves, Mariana; Sandiares, Ana Catarina; Gonçalves, Mariana; Moreira, Luciana Vaz; Coutinho, Maria Francisca; Matos, Liliana; Alves, Sandra; Encarnação, Marisa

细胞生物学

NPC1

发表日期：2026

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Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

从 II 型粘脂病中建立表达该疾病关键标志物的人类 iPSC 系

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms26083871

Moutinho Maria Eduarda, GonÃ§alves Mariana, Duarte Ana Joana, EncarnaÃ§Ã£o Marisa, Coutinho Maria Francisca, Matos Liliana, Santos Juliana InÃªs, Ribeiro Diogo, Amaral Olga, Gaspar Paulo, Alves Sandra, Moreira Luciana Vaz

Human

发表日期：2025

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Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

利用多能干细胞和多向干细胞构建神经系统疾病模型：理解和治疗粘多糖贮积症的关键一步

期刊:Biomedicines

影响因子:3.9

doi:10.3390/biomedicines11041234

Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, Sandra; Coutinho, Maria Francisca

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

尼曼-匹克C型遗传性脂质贮积症的microRNA谱、潜在诊断生物标志物和基于RNA的疗法

期刊:Biomedicines

影响因子:3.9

doi:10.3390/biomedicines11102615

Encarnação, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, Sandra

发表日期：2023

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Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts

尼曼-匹克病C型渗漏变异和替代转录本的最终诊断挑战

期刊:Genes

影响因子:2.8

doi:10.3390/genes14111990

Encarnação, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, Dulce; Alves, Sandra

发表日期：2023

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Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

剪接调控作为溶酶体贮积症的一种有前景的治疗策略：以粘多糖贮积症为例

期刊:Life-Basel

影响因子:3.4

doi:10.3390/life12050608

Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria João; Coutinho, Maria Francisca; Alves, Sandra

信号转导

发表日期：2022

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Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

在新一代测序（NGS）时代评估溶酶体疾病：识别新的罕见变异

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms21176355

Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Ouesleti, Souad; Campos, Teresa; Santos, Helena; Martins, Esmeralda; Cardoso, Maria Teresa; Vilarinho, Laura; Alves, Sandra

发表日期：2020

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Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

溶酶体贮积症相关神经病变：以稳定核酸脂质颗粒（SNALP）包裹的siRNA靶向大脑的治疗方法

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms21165732

Coutinho, Maria Francisca; Santos, Juliana Inês; S Mendonça, Liliana; Matos, Liliana; Prata, Maria João; S Jurado, Amália; Pedroso de Lima, Maria C; Alves, Sandra

神经科学

发表日期：2020

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Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

粘多糖贮积症 (MPS) VI 型潜在新型剪接突变的分子特征——其致病性的间接原理验证

期刊:Diagnostics

影响因子:3.3

doi:10.3390/diagnostics10020058

Coutinho, Maria Francisca; Encarnação, Marisa; Matos, Liliana; Silva, Lisbeth; Ribeiro, Diogo; Santos, Juliana Inês; Prata, Maria João; Vilarinho, Laura; Alves, Sandra

发表日期：2020

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Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

少即是多：溶酶体贮积症的底物减少疗法

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms17071065

Coutinho, Maria Francisca; Santos, Juliana Inês; Alves, Sandra

发表日期：2016

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ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene

ARPE-19-A 稳定细胞系表达 NPC1 基因中意义不明的变异体

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

从 II 型粘脂病中建立表达该疾病关键标志物的人类 iPSC 系

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

利用多能干细胞和多向干细胞构建神经系统疾病模型：理解和治疗粘多糖贮积症的关键一步

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

尼曼-匹克C型遗传性脂质贮积症的microRNA谱、潜在诊断生物标志物和基于RNA的疗法

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts

尼曼-匹克病C型渗漏变异和替代转录本的最终诊断挑战

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

剪接调控作为溶酶体贮积症的一种有前景的治疗策略：以粘多糖贮积症为例

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

在新一代测序（NGS）时代评估溶酶体疾病：识别新的罕见变异

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

溶酶体贮积症相关神经病变：以稳定核酸脂质颗粒（SNALP）包裹的siRNA靶向大脑的治疗方法

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

粘多糖贮积症 (MPS) VI 型潜在新型剪接突变的分子特征——其致病性的间接原理验证

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

少即是多：溶酶体贮积症的底物减少疗法