Cargando…

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, resulting in keratan sulfate (KS) and chondroitin-6-sulfate accumulation. Patients develop severe skeletal dysplasia, early cartilage...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bertolin, Joan, Sánchez, Víctor, Ribera, Albert, Jaén, Maria Luisa, Garcia, Miquel, Pujol, Anna, Sánchez, Xavier, Muñoz, Sergio, Marcó, Sara, Pérez, Jennifer, Elias, Gemma, León, Xavier, Roca, Carles, Jimenez, Veronica, Otaegui, Pedro, Mulero, Francisca, Navarro, Marc, Ruberte, Jesús, Bosch, Fatima
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429698/ https://www.ncbi.nlm.nih.gov/pubmed/34504088 http://dx.doi.org/10.1038/s41467-021-25697-y

Ejemplares similares

Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC
por: Marcó, Sara, et al.
Publicado: (2016)

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model
por: Sawamoto, Kazuki, et al.
Publicado: (2020)

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
por: Hendriksz, Christian J., et al.
Publicado: (2012)

Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal
por: Marcó, Sara, et al.
Publicado: (2021)

Diagnosing mucopolysaccharidosis IVA
por: Wood, Timothy C., et al.
Publicado: (2013)

AAV-mediated Sirt1 overexpression in skeletal muscle activates oxidative capacity but does not prevent insulin resistance
por: Vilà, Laia, et al.
Publicado: (2016)

Role of elosulfase alfa in mucopolysaccharidosis IVA
por: Regier, Debra S, et al.
Publicado: (2016)

Atypical presentation of mucopolysaccharidosis type IVA
por: Rush, Eric T.
Publicado: (2016)

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
por: Sawamoto, Kazuki, et al.
Publicado: (2020)

Cochlear implantation in a patient with mucopolysaccharidosis IVA
por: Nagao, Kyoko, et al.
Publicado: (2019)

Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA
por: Wang, Zhigang, et al.
Publicado: (2020)

Bone Growth Induction in Mucopolysaccharidosis IVA Mouse
por: Rintz, Estera, et al.
Publicado: (2023)

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks
por: Leal, Andrés Felipe, et al.
Publicado: (2023)

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
por: Lin, Hsiang-Yu, et al.
Publicado: (2014)

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
por: Lee, Na Hee, et al.
Publicado: (2012)

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
por: Tapiero-Rodriguez, Sandra M, et al.
Publicado: (2018)

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA
por: Álvarez, Víctor J., et al.
Publicado: (2020)

Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease
por: Montavon, Brittany, et al.
Publicado: (2022)

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
por: Lee, Yi-Hao, et al.
Publicado: (2023)

A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring
por: Goldman, Eric, et al.
Publicado: (2021)

Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy
por: Piechnik, Matthew, et al.
Publicado: (2022)

Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
por: Lee, Na Hee, et al.
Publicado: (2013)

Muskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case
por: Ganeva, Margarita, et al.
Publicado: (2014)

Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model
por: Sawamoto, Kazuki, et al.
Publicado: (2019)

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
por: Chen, Hui, et al.
Publicado: (2021)

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation
por: Moreno Giraldo, Lina Johanna, et al.
Publicado: (2018)

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
por: Kampmann, Christoph, et al.
Publicado: (2016)

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
por: Lin, Hsiang-Yu, et al.
Publicado: (2018)

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA
por: Chin, Sharon J., et al.
Publicado: (2020)

Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI
por: Tulebayeva, Assel, et al.
Publicado: (2020)

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
por: Quijada-Fraile, Pilar, et al.
Publicado: (2021)

Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients
por: Alkhzouz, Camelia, et al.
Publicado: (2021)

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I
por: Lund, Troy C., et al.
Publicado: (2020)

AAV8-mediated Sirt1 gene transfer to the liver prevents high carbohydrate diet-induced nonalcoholic fatty liver disease
por: Vilà, Laia, et al.
Publicado: (2014)

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts
por: Brokowska, Joanna, et al.
Publicado: (2023)

Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis
por: García, Miguel, et al.
Publicado: (2009)

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
por: Solanki, Guirish A., et al.
Publicado: (2013)

Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA()
por: Chinen, Yasutsugu, et al.
Publicado: (2014)

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)
por: Al Kaissi, Ali, et al.
Publicado: (2016)

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels
por: Donida, Bruna, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_bsbt1f5mqieur6cg7b3fnbob31