| 1 | B4GALNT1, SPG26
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| Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia.
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| 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.
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| Am J Hum Genet. 2013
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| 2 | B4GALNT1
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| Differential expression profiles of glycosphingolipids in human breast cancer stem cells vs. cancer non-stem cells.
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| Liang YJ, Ding Y, Levery SB, Lobaton M, Handa K, Hakomori SI.
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| Proc Natl Acad Sci U S A. 110(13):4968-73. 2013
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| 3 | B4GALNT1
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| Essential roles of gangliosides in the formation and maintenance of membrane microdomains in brain tissues.
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| Ohmi Y, Ohkawa Y, Yamauchi Y, Tajima O, Furukawa K, Furukawa K.
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| Neurochem Res. 37(6):1185-91. 2012
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| 4 | B4GALNT1
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| Neuroplastin expression in the hippocampus of mice lacking complex gangliosides.
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| Mlinac K, Jovanov Miloević N, Heffer M, Smalla KH, Schnaar RL, Kalanj Bognar S.
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| J Mol Neurosci. 48(1):161-6. 2012
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| 5 | B4GALNT1
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| Gangliosides are essential in the protection of inflammation and neurodegeneration via maintenance of lipid rafts: elucidation by a series of ganglioside-deficient mutant mice.
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| Ohmi Y, Tajima O, Ohkawa Y, Yamauchi Y, Sugiura Y, Furukawa K, Furukawa K.
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| J Neurochem. 116(5):926-35. 2011
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| 6 | B4GALNT1
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| Multi-system disorders of glycosphingolipid and ganglioside metabolism.
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| Xu YH, Barnes S, Sun Y, Grabowski GA.
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| J Lipid Res. 51(7):1643-75. 2010
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| 7 | B4GALNT1
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| Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation.
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| Boraska V, Torlak V, Skrabić V, Kacić Z, Jaksić J, Stipancić G, Uroić AS, Markotić A, Zemunik T.
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| Clin Biochem. 42(9):819-22. 2009
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| 8 | B4GALNT1
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| Morphological study of disordered myelination and the degeneration of nerve fibers in the spinal cord of mice lacking complex gangliosides.
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| Ma Q, Kobayashi M, Sugiura M, Ozaki N, Nishio K, Shiraishi Y, Furukawa K, Furukawa K, Sugiura Y.
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| Arch Histol Cytol. 66(1):37-44. 2003
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| 9 | B4GALNT1
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| Cerebellar neurons lacking complex gangliosides degenerate in the presence of depolarizing levels of potassium.
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| Wu G, Xie X, Lu ZH, Ledeen RW.
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| Proc Natl Acad Sci U S A. 98(1):307-12. 2001
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| 10 | B4GALNT1, NPC1
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| Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
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| Liu Y, Wu YP, Wada R, Neufeld EB, Mullin KA, Howard AC, Pentchev PG, Vanier MT, Suzuki K, Proia RL.
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| Hum Mol Genet 9(7):1087-92. 2000
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| 11 | B4GALNT1
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| Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains.
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| Li J, Yen TY, Allende ML, Joshi RK, Cai J, Pierce WM, Jaskiewicz E, Darling DS, Macher BA, Young WW Jr.
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| J Biol Chem. 275(52):41476-86. 2000
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| 12 | B4GALNT1
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| A functional role for complex gangliosides: motor deficits in GM2/GD2 synthase knockout mice.
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| Chiavegatto S, Sun J, Nelson RJ, Schnaar RL.
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| Exp Neurol. 166(2):227-34. 2000
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| 13 | B4GALNT1
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| GA2/GM2/GD2 synthase localizes to the trans-golgi network of CHO-K1 cells.
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| Giraudo CG, Rosales Fritz VM, Maccioni HJ.
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| Biochem J 342 Pt 3:633-40. 1999
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| 14 | B4GALNT1
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| Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects.
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| Sheikh KA, Sun J, Liu Y, Kawai H, Crawford TO, Proia RL, Griffin JW, Schnaar RL.
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| Proc Natl Acad Sci U S A. 96(13):7532-7 1999
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| 15 | B4GALNT1, KIF5A
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| Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization.
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| Hamlin PJ, et al.
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| Cytogenet Cell Genet 82 : 267-268. 1998
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| 16 | B4GALNT1
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| Complex gangliosides are essential in spermatogenesis of mice: possible roles in the transport of testosterone.
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| Takamiya K, Yamamoto A, Furukawa K, Zhao J, Fukumoto S, Yamashiro S, Okada M, Haraguchi M, Shin M, Kishikawa M, Shiku H, Aizawa S, Furukawa K.
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| Proc Natl Acad Sci U S A. 95(21):12147-52. 1998
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| 17 | B4GALNT1
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| Genomic organization and chromosomal assignment of the human beta1,4-N-acetylgalactosaminyltransferase gene.
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| Furukawa K, et al.
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| J Biol Chem 271 : 20836-20844. 1996
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| 18 | B4GALNT1
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| Beta1,4-N-acetylgalactosaminyltransferase (GM2 synthase) is released from Golgi membranes as a neuraminidase-sensitive, disulfide-bonded dimer by a cathepsin D-like protease.
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| Jaskiewicz E, Zhu G, Bassi R, Darling DS, Young WW Jr.
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| J Biol Chem 271(42):26395-403. 1996
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| 19 | B4GALNT1
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| Takamiya K, Yamamoto A, Furukawa K, Yamashiro S, Shin M, Okada M, Fukumoto S, Haraguchi M, Takeda N, Fujimura K, Sakae M, Kishikawa M, Shiku H, Furukawa K, Aizawa S.
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| Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system.
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| Proc Natl Acad Sci U S A. 93(20):10662-7. 1996
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| 20 | B4GALNT1
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| beta-1,4-N-Acetylgalactosaminyltransferase involved in ganglioside synthesis: cDNA sequence, expression, and chromosome mapping of the mouse gene.
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| Sango K, Johnson ON, Kozak CA, Proia RL.
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| Genomics. 27(2):362-5. 1995
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| 21 | B4GALNT1
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| Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides.
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| Nagata Y, et al.
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| J Biol Chem 267 : 12082-12089. 1992
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