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2025

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1975 1
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1979 3
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1990 1
1991 3
1993 3
1994 3
1995 4
1997 2
1998 3
1999 1
2000 1
2001 3
2003 1
2004 1
2005 3
2006 2
2007 2
2008 4
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2013 5
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2015 3
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2025 0

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72 results

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Page 1
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 dise …
Mitochondria-associated membranes in aging and senescence: structure, function, and dynamics.
Janikiewicz J, Szymański J, Malinska D, Patalas-Krawczyk P, Michalska B, Duszyński J, Giorgi C, Bonora M, Dobrzyn A, Wieckowski MR. Janikiewicz J, et al. Cell Death Dis. 2018 Feb 28;9(3):332. doi: 10.1038/s41419-017-0105-5. Cell Death Dis. 2018. PMID: 29491385 Free PMC article. Review.
Recently, MAM have also been studied in the context of different pathologies, including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, type 2 diabetes mellitus and GM1-gangliosidosis. An underappreciated amount of data links MAM with aging …
Recently, MAM have also been studied in the context of different pathologies, including Alzheimer's disease, Parkinson's disease, amyotrophi …
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.
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the ne …
Metabolic cardiomyopathies.
Guertl B, Noehammer C, Hoefler G. Guertl B, et al. Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x. Int J Exp Pathol. 2000. PMID: 11298185 Free PMC article. Review.
Niemann-Pick disease, Gaucher disease, I-cell disease, various types of mucopolysaccharidoses, GM1 gangliosidosis, galactosialidosis, carbohydrate-deficient glycoprotein syndromes and Sandhoff's disease). ...
Niemann-Pick disease, Gaucher disease, I-cell disease, various types of mucopolysaccharidoses, GM1 gangliosidosis, galactosial …
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 …
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW. Callahan JW. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):85-103. doi: 10.1016/s0925-4439(99)00075-7. Biochim Biophys Acta. 1999. PMID: 10571006 Free article. Review.
GM1 gangliosidosis and Morquio B disease are distinct disorders both clinically and biochemically yet they arise from the same beta-galactosidase enzyme deficiency. ...In this review, I focus mainly on the primary and secondary beta-galactosidase deficiency states a
GM1 gangliosidosis and Morquio B disease are distinct disorders both clinically and biochemically yet they arise from the same
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 …
Ganglioside GM1 and the Central Nervous System.
Guo Z. Guo Z. Int J Mol Sci. 2023 May 31;24(11):9558. doi: 10.3390/ijms24119558. Int J Mol Sci. 2023. PMID: 37298512 Free PMC article. Review.
GM1 is one of the major glycosphingolipids (GSLs) on the cell surface in the central nervous system (CNS). ...Overall, GM1 is protective for the CNS. Additionally, this review has also examined the relationships between GM1 and neurological disorders, such as
GM1 is one of the major glycosphingolipids (GSLs) on the cell surface in the central nervous system (CNS). ...Overall, GM1 is
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. The main cause of this disease is a genetic defect in the enzyme beta-galactosidase due to a mutation in the glb1 gene. ...In this regard, th …
One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a progressive neurological disorder. T …
72 results