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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, metac …
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs d …
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 have been described: Tay-Sac …
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes …
[Tay-Sachs disease].
Tanaka A. Tanaka A. Nihon Rinsho. 1993 Sep;51(9):2281-5. Nihon Rinsho. 1993. PMID: 8411703 Review. Japanese.
GM2-gangliosidosis is a group of neurological disorders resulting from genetically defective catabolism, and consequent abnormal accumulation, of GM2-ganglioside. Three major types are distinguished: the B variant (Tay-Sachs disease), the O variant …
GM2-gangliosidosis is a group of neurological disorders resulting from genetically defective catabolism, and consequent abnormal accumulatio …
Biochemistry and genetics of gangliosidoses.
Sandhoff K, Christomanou H. Sandhoff K, et al. Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234. Hum Genet. 1979. PMID: 116955 Review.
Contrary to general expectation, only a poor correlation is observed between the severity of the disease and residual activity of the defective enzyme when measured with synthetic or natural substrates in the presence of detergents. ...The significance of activator protein …
Contrary to general expectation, only a poor correlation is observed between the severity of the disease and residual activity of the …
Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ. Mahuran DJ. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. doi: 10.1016/s0925-4439(99)00074-5. Biochim Biophys Acta. 1999. PMID: 10571007 Free article. Review.
A deficiency of any one of these proteins leads to storage of the ganglioside, primarily in the lysosomes of neuronal cells, and one of the three forms of GM2-gangliosidosis, Tay-Sachs disease, Sandhoff disease or the AB-variant form. Stu …
A deficiency of any one of these proteins leads to storage of the ganglioside, primarily in the lysosomes of neuronal cells, and one of the …
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K. Sheth J, et al. BMC Pediatr. 2016 Jul 11;16:88. doi: 10.1186/s12887-016-0626-6. BMC Pediatr. 2016. PMID: 27402091 Free PMC article. Review.
MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant d …
MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Init …
The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.
Cordeiro P, Hechtman P, Kaplan F. Cordeiro P, et al. Genet Med. 2000 Nov-Dec;2(6):319-27. doi: 10.1097/00125817-200011000-00003. Genet Med. 2000. PMID: 11339652 Free article. Review.
The GM2 gangliosidoses are a group of recessive disorders characterized by accumulation of GM2 ganglioside in neuronal cells. The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and …
The GM2 gangliosidoses are a group of recessive disorders characterized by accumulation of GM2 ganglioside in neuronal cells. The genes resp …
[Disorders of sphingolipid activator proteins].
Suzuki Y. Suzuki Y. Nihon Rinsho. 1995 Dec;53(12):3025-7. Nihon Rinsho. 1995. PMID: 8577053 Review. Japanese.
GM2 activator encoded by a gene on chromosome 5 is essential for hydrolysis of ganglioside GM2 and its asialo derivative. Mutations of this gene cause Tay-Sachs disease-like clinical phenotype (GM2-gangliosidosis AB variant). ...These five prote …
GM2 activator encoded by a gene on chromosome 5 is essential for hydrolysis of ganglioside GM2 and its asialo derivative. Mutations of this …