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Year Number of Results
1975 1
1979 2
1993 1
1995 3
1997 3
1998 2
1999 1
2000 1
2003 1
2004 2
2006 2
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2014 1
2016 1
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27 results

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Page 1
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 gangliosido
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome du
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease.
Breiden B, Sandhoff K. Breiden B, et al. Int J Mol Sci. 2020 Apr 7;21(7):2566. doi: 10.3390/ijms21072566. Int J Mol Sci. 2020. PMID: 32272755 Free PMC article. Review.
In particular, they trigger a secondary accumulation of ganglioside GM2, glucosylceramide and cholesterol in Niemann-Pick disease type A and B, and of GM2 and glucosylceramide in Niemann-Pick disease type C. Chondroitin sulfate effectively inhibits …
In particular, they trigger a secondary accumulation of ganglioside GM2, glucosylceramide and cholesterol in Niemann-Pi …
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.
Regier DS, Proia RL, D'Azzo A, Tifft CJ. Regier DS, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1(Suppl 1):663-73. Pediatr Endocrinol Rev. 2016. PMID: 27491214 Free PMC article. Review.
The gangliosidoses are lysosomal storage disorders caused by accumulation of GM1 or GM2 gangliosides. GM1 gangliosidosis has both central nervous system and systemic findings; while, GM2 gangliosidosis is restricted primarily to the central nervous system. .. …
The gangliosidoses are lysosomal storage disorders caused by accumulation of GM1 or GM2 gangliosides. GM1 gangliosidosis has b …
[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 (Sa
GM2-gangliosidosis is a group of neurological disorders resulting from genetically defective catabolism, and consequent abnormal a
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S. Ganne B, et al. Neurol Sci. 2022 Nov;43(11):6517-6527. doi: 10.1007/s10072-022-06270-x. Epub 2022 Aug 4. Neurol Sci. 2022. PMID: 35925454 Free article. Review.
AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2 gangliosides. ...The nonsense mutation was predicted to be likely pathogenic, but the missense mutation was of unknown significance. To est …
AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2
GM2 ganglioside and pyramidal neuron dendritogenesis.
Walkley SU, Siegel DA, Dobrenis K. Walkley SU, et al. Neurochem Res. 1995 Nov;20(11):1287-99. doi: 10.1007/BF00992503. Neurochem Res. 1995. PMID: 8786814 Review.
GM2 ganglioside, although scarce in normal adult brain, is the predominant ganglioside accumulating in several types of lysosomal disorders, most notably Tay-Sachs disease. ...Further, studies examining disease development have consistently shown that
GM2 ganglioside, although scarce in normal adult brain, is the predominant ganglioside accumulating in several t
The gangliosidoses.
Volk BW, Adachi M, Schneck L. Volk BW, et al. Hum Pathol. 1975 Sep;6(5):555-69. doi: 10.1016/s0046-8177(75)80041-4. Hum Pathol. 1975. PMID: 170187 Review.
The gangliosidoses are hereditary diseases with a recessive mode of inheritance and are caused by a genetically induced enzymatic block, which results in the accumulation of gangliosides in various tissues of the body, mainly in the brain. Although Tay-Sachs disease, the m …
The gangliosidoses are hereditary diseases with a recessive mode of inheritance and are caused by a genetically induced enzymatic block, whi …
Gangliosides and autoimmune diabetes.
Misasi R, Dionisi S, Farilla L, Carabba B, Lenti L, Di Mario U, Dotta F. Misasi R, et al. Diabetes Metab Rev. 1997 Sep;13(3):163-79. doi: 10.1002/(sici)1099-0895(199709)13:3<163::aid-dmr189>3.0.co;2-z. Diabetes Metab Rev. 1997. PMID: 9307889 Review.
These diseases include two major forms of ganglioside storage, namely GM2-gangliosidosis (Tay-Sachs and its beta-hexosaminidase deficiency) and GM1-gangliosidosis (beta-galactosidase deficiency), where the most prominent pathological characteristic is the lysosomal …
These diseases include two major forms of ganglioside storage, namely GM2-gangliosidosis (Tay-Sachs and its beta-hexosaminidas …
[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
Tsuji D. Tsuji D. Yakugaku Zasshi. 2013;133(2):269-74. doi: 10.1248/yakushi.12-00199. Yakugaku Zasshi. 2013. PMID: 23370522 Free article. Review. Japanese.
In Tay-Sachs disease, excessive accumulation of GM2 ganglioside (GM2), mainly in the central nervous system, is caused by a deficiency of the HexA isozyme (alphabeta heterodimer), resulting in progressive neurologic disorders. In Sandhoff disease, comb …
In Tay-Sachs disease, excessive accumulation of GM2 ganglioside (GM2), mainly in the central nervous system, is …
Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.
Vanier MT. Vanier MT. Neurochem Res. 1999 Apr;24(4):481-9. doi: 10.1023/a:1022575511354. Neurochem Res. 1999. PMID: 10227680 Review.
In cerebral cortex, gangliosides GM3 and GM2 showed a significant increase, 10-15 fold and 3-5-fold the normal level, respectively, with already some abnormalities in a 3-month-old patient. Except in the latter patient, a prominent storage of glucosylceramide, lactosylcera …
In cerebral cortex, gangliosides GM3 and GM2 showed a significant increase, 10-15 fold and 3-5-fold the normal level, respectively, w …
27 results