Cargando…

Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses

β-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing β-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders characterized by β-hexosaminidase deficiency...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cavender, Catlyn, Mangini, Linley, Van Vleet, Jeremy L., Corado, Carley, McCullagh, Emma, Gray-Edwards, Heather L., Martin, Douglas R., Crawford, Brett E., Lawrence, Roger
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7707493/ https://www.ncbi.nlm.nih.gov/pubmed/33259552 http://dx.doi.org/10.1371/journal.pone.0243006

Ejemplares similares

Characterization of glycan substrates accumulating in GM1 Gangliosidosis
por: Lawrence, Roger, et al.
Publicado: (2019)

Thymic Alterations in GM2 Gangliosidoses Model Mice
por: Kanzaki, Seiichi, et al.
Publicado: (2010)

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment
por: Toro, Camilo, et al.
Publicado: (2021)

The diagnostic journey for patients with late-onset GM2 Gangliosidoses
por: Lopshire, Mariah C., et al.
Publicado: (2023)

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
por: Leal, Andrés Felipe, et al.
Publicado: (2020)

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation
por: Castejón-Vega, Beatriz, et al.
Publicado: (2021)

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
por: Mansouri‐Movahed, Fatemeh, et al.
Publicado: (2020)

In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses
por: Kohyama, Moeko, et al.
Publicado: (2016)

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts
por: Kitakaze, Keisuke, et al.
Publicado: (2016)

Chitotriosidase as a biomarker for gangliosidoses
por: Kim, Sarah, et al.
Publicado: (2021)

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
por: Welford, Richard W.D., et al.
Publicado: (2022)

CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors
por: Leal, Andrés Felipe, et al.
Publicado: (2022)

The juvenile gangliosidoses: A timeline of clinical change
por: King, Kelly E., et al.
Publicado: (2020)

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses
por: Shaimardanova, Alisa A., et al.
Publicado: (2021)

Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice
por: Chen, Joseph C., et al.
Publicado: (2020)

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia
por: Fields, T., et al.
Publicado: (2021)

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
por: Deschenes, Natalie M., et al.
Publicado: (2023)

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study
por: Nestrasil, Igor, et al.
Publicado: (2017)

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses
por: Strobel, Sebastian, et al.
Publicado: (2020)

The GM2 Glycan Serves as a Functional Coreceptor for Serotype 1 Reovirus
por: Reiss, Kerstin, et al.
Publicado: (2012)

Secondary ganglioside GM2 accumulation in mucopolysaccharidoses
por: Sandhoff, Konrad
Publicado: (2021)

Conformational Change of Amyloid-β 40 in Association with Binding to GM1-Glycan Cluster
por: Tachi, Yuhei, et al.
Publicado: (2019)

How reliable is a radiological report in osteoporosis in diagnosing low bone density?
por: McCullagh, C. D., et al.
Publicado: (2003)

Good practice : communication Skills in English for the Medical Practitioner.
por: McCullagh, Marie
Publicado: (2008)

They Said He Would Never Read
por: McCullagh, Mary
Publicado: (1966)

Three Examples of Chordoma
por: McCullagh, Graham P.
Publicado: (1934)

Four Cases of Plasma-Cell Tumour
por: McCullagh, G. P.
Publicado: (1933)

THE ABROGATION OF SHEEP ERYTHROCYTE TOLERANCE IN RATS BY MEANS OF THE TRANSFER OF ALLOGENEIC LYMPHOCYTES
por: McCullagh, Peter J.
Publicado: (1970)

Can a young muscle's stem cell secretome prolong our lives?
por: McCullagh, Karl JA
Publicado: (2012)

Protocol of a randomized controlled trial of hearing protection interventions for farm operators
por: McCullagh, Marjorie C, et al.
Publicado: (2015)

NETs and CF Lung Disease: Current Status and Future Prospects
por: Gray, Robert D., et al.
Publicado: (2015)

Generalized linear models /
por: McCullagh, P. (Peter), 1952-
Publicado: (1999)

Management of Familial Ovarian Teratoma: The Need for Guidance
por: Braungart, Sarah, et al.
Publicado: (2016)

Soybean GmMYB73 promotes lipid accumulation in transgenic plants
por: Liu, Yun-Feng, et al.
Publicado: (2014)

Generalized linear models
por: McCullagh, P, et al.
Publicado: (2019)

Auditory Brain Stem Responses in the C57BL/6J Fragile X Syndrome-Knockout Mouse Model
por: Chawla, Amita, et al.
Publicado: (2022)

Liver fibrosis and CD206(+) macrophage accumulation are suppressed by anti-GM-CSF therapy
por: Tan-Garcia, Alfonso, et al.
Publicado: (2019)

Influence of secondary inoculum of tumour cells on growth of primary tumour.
por: van der Gaag, R., et al.
Publicado: (1978)

Highlights from the Critical Care Canada Forum 2009 - 25 to 28 October 2009, Toronto, Ontario, Canada
por: McCullagh, Iain J, et al.
Publicado: (2010)

Editorial: From Perception to Action: The Role of Auditory and Visual Information in Perceiving and Performing Complex Movements
por: Murgia, Mauro, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_rhl2jacusoe87cpqeq0d71rpjs