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1948 2
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1956 1
1957 1
1960 1
1961 1
1962 1
1964 1
1965 1
1967 1
1968 6
1969 6
1970 9
1971 7
1972 2
1973 8
1974 12
1975 23
1976 17
1977 24
1978 21
1979 15
1980 10
1981 14
1982 19
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1984 23
1985 23
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1987 14
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1989 13
1990 16
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1992 20
1993 15
1994 17
1995 15
1996 10
1997 14
1998 16
1999 17
2000 16
2001 15
2002 8
2003 12
2004 23
2005 26
2006 22
2007 26
2008 22
2009 16
2010 22
2011 25
2012 32
2013 31
2014 24
2015 33
2016 25
2017 27
2018 25
2019 23
2020 25
2021 28
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2023 31
2024 11

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1,004 results

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Page 1
GM1 Gangliosidosis-A Mini-Review.
Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM. Nicoli ER, et al. Front Genet. 2021 Sep 3;12:734878. doi: 10.3389/fgene.2021.734878. eCollection 2021. Front Genet. 2021. PMID: 34539759 Free PMC article. Review.
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme beta-galactosidase. ...So far 261 pathogenic variants have been described, missense/nonsense mutations being the most prevalent. Th …
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding th …
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K, Fallahi J, Tabei SMB, Razban V. Hosseini K, et al. Cell Biochem Funct. 2023 Dec;41(8):1093-1105. doi: 10.1002/cbf.3887. Epub 2023 Nov 29. Cell Biochem Funct. 2023. PMID: 38018878 Review.
One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a progressive neurological disorder. ...In this regard, the present article reviews the general features of GM1 gangliosidosis and its mutations, as well as gene th …
One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a progressive neurological disorder. . …
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ. Lang FM, et al. Mol Genet Metab. 2020 Mar;129(3):228-235. doi: 10.1016/j.ymgme.2019.12.012. Epub 2019 Dec 30. Mol Genet Metab. 2020. PMID: 31937438 Free PMC article. Review.
INTRODUCTION: Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage disorder, with life expectancy of <3 years of age. ...METHODS: PubMed was searched with the keyword "GM1 Gangliosidosis" and for articles from the year 2000 on …
INTRODUCTION: Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage disorder, with life expectancy of &l …
GM1-Gangliosidosis Type III Associated Parkinsonism.
Kaiyrzhanov R, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Allahyarova P, Ferla MP, Houlden H. Kaiyrzhanov R, et al. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S21-S23. doi: 10.1002/mdc3.13289. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514040 Free PMC article. No abstract available.
[GM1 gangliosidosis].
Tanaka A. Tanaka A. Ryoikibetsu Shokogun Shirizu. 2001;(33):756-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462671 Review. Japanese. No abstract available.
Late-infantile GM1 gangliosidosis: A case report.
Noh ES, Park HM, Kim MS, Park HD, Cho SY, Jin DK. Noh ES, et al. Medicine (Baltimore). 2022 Jan 7;101(1):e28435. doi: 10.1097/MD.0000000000028435. Medicine (Baltimore). 2022. PMID: 35029890 Free PMC article.
RATIONALE: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ss-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the dia …
RATIONALE: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency …
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.
Allende ML, Lee YT, Byrnes C, Li C, Tuymetova G, Bakir JY, Nicoli ER, James VK, Brodbelt JS, Tifft CJ, Proia RL. Allende ML, et al. J Lipid Res. 2023 Dec;64(12):100463. doi: 10.1016/j.jlr.2023.100463. Epub 2023 Oct 21. J Lipid Res. 2023. PMID: 37871851 Free PMC article.
GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes lysosomal beta-galactosidase. ...The expression of genes associated with neuroinflammation and glial responses were enhanced in Glb1/Neu3 DKO mice compared with Gl …
GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes lysosomal beta-galactos …
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.
Bingaman A, Waggoner C, Andrews SM, Pangonis D, Trad M, Giugliani R, Giorgino R, Jarnes J, Vakili R, Ballard V, Peay HL. Bingaman A, et al. Am J Med Genet A. 2023 Feb;191(2):408-423. doi: 10.1002/ajmg.a.63038. Epub 2022 Dec 21. Am J Med Genet A. 2023. PMID: 36541412 Free PMC article.
GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study-the first to explore priorities of …
GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive declin …
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
Brunetti-Pierri N, Scaglia F. Brunetti-Pierri N, et al. Mol Genet Metab. 2008 Aug;94(4):391-396. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524657 Review.
GM(1) gangliosidosis is a lysosomal storage disorder due to deficiency of the beta-galactosidase enzyme. ...This review gives an overview of the clinical and molecular findings in patients with GM(1) gangliosidosis. Furthermore, it describes therapeutic approaches w …
GM(1) gangliosidosis is a lysosomal storage disorder due to deficiency of the beta-galactosidase enzyme. ...This review gives an over …
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.
Liu S, Feng Y, Huang Y, Jiang X, Tang C, Tang F, Zeng C, Liu L. Liu S, et al. Exp Biol Med (Maywood). 2021 Jun;246(11):1330-1341. doi: 10.1177/1535370221993052. Epub 2021 Feb 14. Exp Biol Med (Maywood). 2021. PMID: 33583210 Free PMC article.
GM1 gangliosidosis is a rare lysosomal storage disease caused by a deficiency of beta-galactosidase due to mutations in the GLB1 gene. ...In conclusion, we developed a novel murine model that mimicked the chronic phenotype of human GM1. This Glb1(G455R) murin …
GM1 gangliosidosis is a rare lysosomal storage disease caused by a deficiency of beta-galactosidase due to mutations in the GL …
1,004 results

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