Cargando…

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

Mucopolysaccharidosis type VI (MPS VI) is a severe lysosomal storage disorder without central nervous system involvement caused by arylsulfatase B (ARSB) deficiency. MPS VI is characterized by dysostosis multiplex, corneal clouding, heart valve defects and urinary excretion of glycosaminoglycans (GA...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bartolomeo, Rosa, Polishchuk, Elena V., Volpi, Nicola, Polishchuk, Roman S., Auricchio, Alberto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590409/ https://www.ncbi.nlm.nih.gov/pubmed/22971959 http://dx.doi.org/10.1007/s10545-012-9521-y

Ejemplares similares

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
por: Uttarilli, Anusha, et al.
Publicado: (2015)

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
por: Malekpour, Nasrin, et al.
Publicado: (2018)

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
por: Tomanin, Rosella, et al.
Publicado: (2018)

Mutations in ARSB in MPS VI patients in India
por: Mathew, Juby, et al.
Publicado: (2015)

Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in
por: Hosoba, Kosuke
Publicado: (2022)

Mucopolysaccharidosis VI
por: Valayannopoulos, Vassili, et al.
Publicado: (2010)

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)
por: Saccone, Paola, et al.
Publicado: (2014)

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI
por: Tessitore, Alessandra, et al.
Publicado: (2009)

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI
por: Broeders, Mike, et al.
Publicado: (2020)

Visual impairment in mucopolysaccharidosis VI
por: Magalhães, Augusto Monteiro, et al.
Publicado: (2023)

The Contribution of ArsB to Arsenic Resistance in Campylobacter jejuni
por: Shen, Zhangqi, et al.
Publicado: (2013)

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
por: Voskoboeva, Elena, et al.
Publicado: (2022)

Diagnostic and treatment strategies in mucopolysaccharidosis VI
por: Vairo, Filippo, et al.
Publicado: (2015)

Translational Read-Through Therapy of RPGR Nonsense Mutations
por: Vössing, Christine, et al.
Publicado: (2020)

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI
por: Harmatz, Paul R., et al.
Publicado: (2013)

Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI
por: Landen, Michiel, et al.
Publicado: (2021)

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
por: D’Avanzo, Francesca, et al.
Publicado: (2021)

Mucopolysaccharidosis Type VI with Recurrent Chest Infection
por: Numan, Ashraf, et al.
Publicado: (2023)

Recoding of Nonsense Mutation as a Pharmacological Strategy
por: Temaj, Gazmend, et al.
Publicado: (2023)

Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI
por: Ferla, Rita, et al.
Publicado: (2017)

Mucopolysaccharidosis VI in cats – clarification regarding genetic testing
por: Lyons, Leslie A., et al.
Publicado: (2016)

Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy
por: Colella, Pasqualina, et al.
Publicado: (2013)

Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome
por: Cho, Hee Yeon, et al.
Publicado: (2013)

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
por: Giugliani, Roberto, et al.
Publicado: (2010)

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
por: Brands, Marion M, et al.
Publicado: (2013)

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
por: Karir, Aneesh, et al.
Publicado: (2018)

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics
por: Tebani, Abdellah, et al.
Publicado: (2019)

Morphogenesis of post-Golgi transport carriers
por: Luini, Alberto, et al.
Publicado: (2008)

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
por: Piccolo, Pasquale, et al.
Publicado: (2019)

Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
por: He, Ming-Fang, et al.
Publicado: (2021)

Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside
por: Höpfner, Friederike, et al.
Publicado: (2022)

A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis
por: Zapała, Barbara, et al.
Publicado: (2020)

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
por: Pachajoa, Harry, et al.
Publicado: (2014)

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux–Lamy syndrome)
por: Giraldo, Gustavo Adolfo, et al.
Publicado: (2015)

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

Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene
por: Venturini, Arianna, et al.
Publicado: (2021)

Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene
por: Palomar-Siles, Mireia, et al.
Publicado: (2023)

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
por: Jurecka, Agnieszka, et al.
Publicado: (2013)

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report
por: Wu, Xia, et al.
Publicado: (2019)

Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations
por: Bansal, Abhishek, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_tbspf1ca4kst6p1vf80sflho8u