Zobrazeno 1 - 10
of 209
pro vyhledávání: '"GM2 gangliosidoses"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101014- (2023)
Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2
Externí odkaz:
https://doaj.org/article/c45dd6a5b126438f90a862a1d5bd9c7b
Autor:
Berrak Bilginer Gürbüz, Habibe Koç Uçar, Fatma Derya Bulut, Esra Sarıgeçili, Bilge Sarıkepe, Özge Özalp Yüreğir
Publikováno v:
Cukurova Medical Journal, Vol 46, Iss 3, Pp 1201-1207 (2021)
Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2 gangliosidoses. Materials and Methods: The file records of 14 patients diagnosed with GM2 ganglio
Externí odkaz:
https://doaj.org/article/7256cc1934c44198ab0a2579d0443be4
Akademický článek
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Autor:
Andrés Felipe Leal, Javier Cifuentes, Valentina Quezada, Eliana Benincore-Flórez, Juan Carlos Cruz, Luis Humberto Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10672 (2022)
The gangliosidoses GM2 are a group of pathologies mainly affecting the central nervous system due to the impaired GM2 ganglioside degradation inside the lysosome. Under physiological conditions, GM2 ganglioside is catabolized by the β-hexosaminidase
Externí odkaz:
https://doaj.org/article/0fd634efe2bf484eae27400e11735bfb
Akademický článek
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Autor:
Timothy M. Cox
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of
Externí odkaz:
https://doaj.org/article/b1894fcd4c754275a451024870a9031e
Autor:
Andrés Felipe Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, Olga Yaneth Echeverri-Peña, Diego A. Suarez, Carlos Javier Alméciga-Díaz, Angela Johana Espejo-Mojica
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 17, p 6213 (2020)
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein. Three GM2 gangliosidoses have been
Externí odkaz:
https://doaj.org/article/c8f206a2c4034157812f5589fe06d2d5
Autor:
Fatemeh Mansouri‐Movahed, Parvaneh Nikpour, Modjtaba Emadi-Baygi, Masoud Garshasbi, Fatemeh Akhoundi
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2583-2591 (2020)
Clinical Case Reports
Clinical Case Reports
Sandhoff disease is one of the GM2‐gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2‐ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ca026067c336484e012a1bc7da1dbe
https://doaj.org/article/e5330f705f024180829a866ba84a9da2
https://doaj.org/article/e5330f705f024180829a866ba84a9da2
Autor:
Stephanie G Bertrand, Mohammed Salman Shazeeb, Erin Horn, Deborah Fernau, Miguel Sena-Esteves, Toloo Taghian, Lindsey J Bierfeldt, Aly Abayazeed, Oguz Cataltepe, Stephen Frey, Susan M Tuominen, Jennifer W. Koehler, Heather L. Gray-Edwards, Terence R. Flotte, Matthew J. Gounis
Publikováno v:
Human Gene Therapy. 31:617-625
Thalamic infusion of adeno-associated viral (AAV) vectors has been shown to have therapeutic effects in neuronopathic lysosomal storage diseases. Preclinical studies in sheep model of Tay-Sachs disease demonstrated that bilateral thalamic injections
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d84109bf74c289d2790f00cbf8260a
https://doi.org/10.1089/hum.2019.288
https://doi.org/10.1089/hum.2019.288
Publikováno v:
Российский физиологический журнал им И М Сеченова. 106:952-963
Lysosphingolipids are an N-deacetylated form of sphingolipids. Lysosphingolipids are considered as potential biomarkers of lysosomal storage disorders (LSD) such as Gaucher disease (GD), Fabry disease (FD), Krabbe disease (KD), and Nimann-Peak diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8d2466d1c0009acb0a50e1c5ee8a8b6
https://doi.org/10.31857/s0869813920080105
https://doi.org/10.31857/s0869813920080105