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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 2
1964 1
1965 1
1967 1
1971 1
1973 1
1974 1
1979 8
1980 1
1981 4
1982 5
1983 2
1984 5
1985 2
1986 3
1988 1
1989 2
1990 4
1991 5
1992 4
1993 4
1994 2
1995 10
1996 3
1997 3
1998 14
1999 6
2000 3
2001 9
2002 3
2003 5
2004 5
2005 6
2006 4
2007 5
2008 6
2009 1
2013 5
2014 3
2015 6
2016 3
2017 3
2018 3
2019 3
2020 7
2021 2
2022 2
2023 3
2024 1

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177 results

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Page 1
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM. Cachon-Gonzalez MB, et al. Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622. Curr Gene Ther. 2018. PMID: 29618308 Free PMC article. Review.
Tay-Sachs disease, caused by impaired beta-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. ...This review outlines current knowledge pertaining the pathobiolo …
Tay-Sachs disease, caused by impaired beta-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and …
Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA. Shaimardanova AA, et al. Int J Mol Sci. 2023 Feb 11;24(4):3627. doi: 10.3390/ijms24043627. Int J Mol Sci. 2023. PMID: 36835039 Free PMC article. Review.
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, the AB variant of GM2-gangliosidosis, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe dis …
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sa …
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ. Leal AF, et al. Int J Mol Sci. 2020 Aug 27;21(17):6213. doi: 10.3390/ijms21176213. Int J Mol Sci. 2020. PMID: 32867370 Free PMC article. Review.
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the beta-hexosaminidases subunits or the GM2 activator protein. Three GM2 gangliosidoses
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mu
Tay-Sachs disease.
Fernandes Filho JA, Shapiro BE. Fernandes Filho JA, et al. Arch Neurol. 2004 Sep;61(9):1466-8. doi: 10.1001/archneur.61.9.1466. Arch Neurol. 2004. PMID: 15364698 Review. No abstract available.
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
Mansouri V, Tavasoli AR, Khodarahmi M, Dakkali MS, Daneshfar S, Ashrafi MR, Heidari M, Hosseinpour S, Sharifianjazi F, Bemanalizadeh M. Mansouri V, et al. Eur J Neurol. 2023 Sep;30(9):2919-2945. doi: 10.1111/ene.15871. Epub 2023 Jun 8. Eur J Neurol. 2023. PMID: 37209042 Review.
BACKGROUND: Since the results of previous studies regarding the safety and efficacy of miglustat in GM2 gangliosidosis (GM2g) were inconsistent, we aimed to assess miglustat therapy in GM2g patients. ...
BACKGROUND: Since the results of previous studies regarding the safety and efficacy of miglustat in GM2 gangliosidosis (GM2g) …
The Health Belief Model: a decade later.
Janz NK, Becker MH. Janz NK, et al. Health Educ Q. 1984 Spring;11(1):1-47. doi: 10.1177/109019818401100101. Health Educ Q. 1984. PMID: 6392204 Review.
Gangliosidoses.
Patterson MC. Patterson MC. Handb Clin Neurol. 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. Handb Clin Neurol. 2013. PMID: 23622392 Review.
GM1 and GM2 gangliosidosis are associated with deficiency of beta-galactosidase and beta-hexosaminidase respectively. ...The GM1 gangliosidoses are characterized by dysostosis, organomegaly and coarsening in their most severe forms, whereas children with clas …
GM1 and GM2 gangliosidosis are associated with deficiency of beta-galactosidase and beta-hexosaminidase respectively. ...The G …
Lyso-glycosphingolipids: presence and consequences.
van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG. van Eijk M, et al. Essays Biochem. 2020 Sep 23;64(3):565-578. doi: 10.1042/EBC20190090. Essays Biochem. 2020. PMID: 32808655 Free PMC article. Review.
In lysosomal storage diseases such as Gaucher Disease, Fabry Disease, Krabbe disease, GM1 -and GM2 gangliosidosis, Niemann Pick type C and Metachromatic leukodystrophy massive intra-lysosomal glycosphingolipid accumulation occurs. ...
In lysosomal storage diseases such as Gaucher Disease, Fabry Disease, Krabbe disease, GM1 -and GM2 gangliosidosis, Niemann Pic …
Lysosomal Glycosphingolipid Storage Diseases.
Breiden B, Sandhoff K. Breiden B, et al. Annu Rev Biochem. 2019 Jun 20;88:461-485. doi: 10.1146/annurev-biochem-013118-111518. Annu Rev Biochem. 2019. PMID: 31220974 Review.
Inherited defects of lysosomal hydrolases or lipid-binding proteins cause the accumulation of undegradable material in lysosomal storage diseases (GM1 and GM2 gangliosidosis; Fabry, Gaucher, and Krabbe diseases; and metachromatic leukodystrophy). ...
Inherited defects of lysosomal hydrolases or lipid-binding proteins cause the accumulation of undegradable material in lysosomal storage dis …
177 results