Cargando…

An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA

Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric neurological lysosomal storage disease, is caused by impaired function of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH) resulting in impaired catabolism of heparan sulfate glycosaminoglycan (HS GAG) and its accumul...

Descripción completa

Detalles Bibliográficos
Autores principales:	Douek, Alon M., Amiri Khabooshan, Mitra, Henry, Jason, Stamatis, Sebastian-Alexander, Kreuder, Florian, Ramm, Georg, Änkö, Minna-Liisa, Wlodkowic, Donald, Kaslin, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197930/ https://www.ncbi.nlm.nih.gov/pubmed/34073041 http://dx.doi.org/10.3390/ijms22115948

Ejemplares similares

AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains
por: Hocquemiller, Michaël, et al.
Publicado: (2019)

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA
por: Li, Xiaohua, et al.
Publicado: (2018)

Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery
por: Fu, Haiyan, et al.
Publicado: (2016)

Sensory-Motor Perturbations in Larval Zebrafish (Danio rerio) Induced by Exposure to Low Levels of Neuroactive Micropollutants during Development
por: Henry, Jason, et al.
Publicado: (2022)

An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome)
por: Pollock, Kari, et al.
Publicado: (2023)

Midbrain tectal stem cells display diverse regenerative capacities in zebrafish
por: Lindsey, Benjamin W., et al.
Publicado: (2019)

Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice
por: Dwyer, Chrissa A., et al.
Publicado: (2017)

Retinal Degeneration in MPS-IIIA Mouse Model
por: Intartaglia, Daniela, et al.
Publicado: (2020)

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)
por: Ugrinov, Krastyu G., et al.
Publicado: (2015)

Role of ectonucleotide pyrophosphatase/phosphodiesterase 2 in the midline axis formation of zebrafish
por: Frisca, Frisca, et al.
Publicado: (2016)

Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates
por: Whyte, Lauren S., et al.
Publicado: (2015)

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
por: Singh, Jyotsna, et al.
Publicado: (2018)

Mortality in patients with Sanfilippo syndrome
por: Lavery, Christine, et al.
Publicado: (2017)

A Whole Brain Staining, Embedding, and Clearing Pipeline for Adult Zebrafish to Visualize Cell Proliferation and Morphology in 3-Dimensions
por: Lindsey, Benjamin W., et al.
Publicado: (2018)

Natural history of Sanfilippo syndrome in Spain
por: Delgadillo, Verónica, et al.
Publicado: (2013)

Sanfilippo syndrome: causes, consequences, and treatments
por: Fedele, Anthony O
Publicado: (2015)

Characterization of 3D-Printed Moulds for Soft Lithography of Millifluidic Devices
por: Mohd Fuad, Nurul, et al.
Publicado: (2018)

Functional modulation of human delta opioid receptor by neuropeptide FF
por: Änkö, Minna-Liisa, et al.
Publicado: (2005)

How close are we to therapies for Sanfilippo disease?
por: Gaffke, Lidia, et al.
Publicado: (2017)

Is the eye a window to the brain in Sanfilippo syndrome?
por: Beard, Helen, et al.
Publicado: (2020)

Sanfilippo syndrome: consensus guidelines for clinical care
por: Muschol, Nicole, et al.
Publicado: (2022)

Economic Burden of Sanfilippo Syndrome in the United States
por: Ashby, Frederick, et al.
Publicado: (2023)

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells
por: Lehmann, Rebecca J., et al.
Publicado: (2021)

Reply to Sanfilippo et al. and to Caviedes et al.
por: Arachchillage, Deepa J., et al.
Publicado: (2021)

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
por: Cyske, Zuzanna, et al.
Publicado: (2022)

Biochemical diagnosis of Sanfilippo disorder types A and B
por: Nosier, Soha S., et al.
Publicado: (2023)

Tumor angiogenesis as an important prognostic factor in advanced non-small cell lung cancer (Stage IIIA)
por: Bačić, Ivan, et al.
Publicado: (2018)

Pathobiology
Publicado: (2015)

Pathobiology
Publicado: (2015)

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
por: Lanar, Sally, et al.
Publicado: (2022)

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
por: Valstar, Marlies J, et al.
Publicado: (2011)

Epidemiology of Sanfilippo syndrome: results of a systematic literature review
por: Zelei, Tamás, et al.
Publicado: (2018)

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
por: Muschol, Nicole M., et al.
Publicado: (2019)

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches
por: Benetó, Noelia, et al.
Publicado: (2020)

A case report of Sanfilippo syndrome – the long way to diagnosis
por: Lorenz, Delia, et al.
Publicado: (2022)

Targeted Isolation of Antibiotic Brominated Alkaloids from the Marine Sponge Pseudoceratina durissima Using Virtual Screening and Molecular Networking
por: Lever, James, et al.
Publicado: (2022)

PRINCIPLES OF PATHOBIOLOGY
Publicado: (1976)

PRINCIPLES OF PATHOBIOLOGY
Publicado: (1972)

Whole Body and CNS Biodistribution of rhHNS in Cynomolgus Monkeys after Intrathecal Lumbar Administration: Treatment Implications for Patients with MPS IIIA
por: Chung, Jou-Ku, et al.
Publicado: (2017)

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease
por: Heon-Roberts, Rachel, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_b3v2jcsr92njk9f318g9nm0ehv