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Items: 1 to 20 of 100

1.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH.

Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7.

2.

Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis.

Sandhoff K, Harzer K.

J Neurosci. 2013 Jun 19;33(25):10195-208. doi: 10.1523/JNEUROSCI.0822-13.2013. Review.

3.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G.

Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006. Epub 2013 Jun 6.

4.

Structural analysis of brain ganglioside acetylation patterns in mice with altered ganglioside biosynthesis.

Mlinac K, Fabris D, Vukelić Z, Rožman M, Heffer M, Bognar SK.

Carbohydr Res. 2013 Dec 15;382:1-8. doi: 10.1016/j.carres.2013.09.007. Epub 2013 Sep 27.

PMID:
24140892
7.

Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions.

Yamashita T, Wu YP, Sandhoff R, Werth N, Mizukami H, Ellis JM, Dupree JL, Geyer R, Sandhoff K, Proia RL.

Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2725-30. Epub 2005 Feb 14.

8.

Oligosialogangliosides inhibit GM2- and GD3-synthesis in isolated Golgi vesicles from rat liver.

Yusuf HK, Schwarzmann G, Pohlentz G, Sandhoff K.

Biol Chem Hoppe Seyler. 1987 May;368(5):455-62.

PMID:
3113445
10.

Neuromuscular synaptic transmission in aged ganglioside-deficient mice.

Zitman FM, Todorov B, Verschuuren JJ, Jacobs BC, Furukawa K, Furukawa K, Willison HJ, Plomp JJ.

Neurobiol Aging. 2011 Jan;32(1):157-67. doi: 10.1016/j.neurobiolaging.2009.01.007. Epub 2009 Feb 23.

PMID:
19233512
11.
12.

A functional role for complex gangliosides: motor deficits in GM2/GD2 synthase knockout mice.

Chiavegatto S, Sun J, Nelson RJ, Schnaar RL.

Exp Neurol. 2000 Dec;166(2):227-34.

PMID:
11085888
13.

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH.

Nat Genet. 2004 Nov;36(11):1225-9. Epub 2004 Oct 24.

14.

Alterations of membrane lipids and in gene expression of ganglioside metabolism in different brain structures in a mouse model of mucopolysaccharidosis type I (MPS I).

Kreutz F, dos Santos Petry F, Camassola M, Schein V, Guma FC, Nardi NB, Trindade VM.

Gene. 2013 Sep 15;527(1):109-14. doi: 10.1016/j.gene.2013.06.002. Epub 2013 Jun 15.

15.

Ganglioside synthase knockout in oncogene-transformed fibroblasts depletes gangliosides and impairs tumor growth.

Liu Y, Yan S, Wondimu A, Bob D, Weiss M, Sliwinski K, Villar J, Notario V, Sutherland M, Colberg-Poley AM, Ladisch S.

Oncogene. 2010 Jun 3;29(22):3297-306. doi: 10.1038/onc.2010.85. Epub 2010 Mar 22.

16.

Neuromuscular synaptic function in mice lacking major subsets of gangliosides.

Zitman FM, Todorov B, Jacobs BC, Verschuuren JJ, Furukawa K, Furukawa K, Willison HJ, Plomp JJ.

Neuroscience. 2008 Oct 28;156(4):885-97. doi: 10.1016/j.neuroscience.2008.08.034. Epub 2008 Aug 23.

PMID:
18801416
17.

Neuronal expression of GalNAc transferase is sufficient to prevent the age-related neurodegenerative phenotype of complex ganglioside-deficient mice.

Yao D, McGonigal R, Barrie JA, Cappell J, Cunningham ME, Meehan GR, Fewou SN, Edgar JM, Rowan E, Ohmi Y, Furukawa K, Furukawa K, Brophy PJ, Willison HJ.

J Neurosci. 2014 Jan 15;34(3):880-91. doi: 10.1523/JNEUROSCI.3996-13.2014.

18.

Disruption of GM2/GD2 synthase gene resulted in overt expression of 9-O-acetyl GD3 irrespective of Tis21.

Furukawa K, Aixinjueluo W, Kasama T, Ohkawa Y, Yoshihara M, Ohmi Y, Tajima O, Suzumura A, Kittaka D, Furukawa K.

J Neurochem. 2008 May;105(3):1057-66. doi: 10.1111/j.1471-4159.2008.05232.x. Epub 2008 Jan 14.

20.

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