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Results: 1 to 20 of 127

1.

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, Kitakaze K, Tsuji D, Itoh K, Ishida Y, Suzuki M, Suzuki T, Sakuraba H.

PLoS One. 2011;6(12):e29074. doi: 10.1371/journal.pone.0029074. Epub 2011 Dec 20.

PMID:
22205997
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?

Rosengren B, Månsson JE, Svennerholm L.

J Neurochem. 1987 Sep;49(3):834-40.

PMID:
3612128
[PubMed - indexed for MEDLINE]
3.

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.

Huang JQ, Trasler JM, Igdoura S, Michaud J, Hanal N, Gravel RA.

Hum Mol Genet. 1997 Oct;6(11):1879-85.

PMID:
9302266
[PubMed - indexed for MEDLINE]
Free Article
4.

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.

Sinici I, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL, Mahuran DJ.

PLoS One. 2013;8(3):e57908. doi: 10.1371/journal.pone.0057908. Epub 2013 Mar 4.

PMID:
23483939
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis.

Matsuoka K, Tamura T, Tsuji D, Dohzono Y, Kitakaze K, Ohno K, Saito S, Sakuraba H, Itoh K.

Mol Ther. 2011 Jun;19(6):1017-24. doi: 10.1038/mt.2011.27. Epub 2011 Apr 12.

PMID:
21487393
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

Hou Y, McInnes B, Hinek A, Karpati G, Mahuran D.

J Biol Chem. 1998 Aug 14;273(33):21386-92.

PMID:
9694901
[PubMed - indexed for MEDLINE]
Free Article
7.

[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].

Tsuji D.

Yakugaku Zasshi. 2013;133(2):269-74. Review. Japanese.

PMID:
23370522
[PubMed - indexed for MEDLINE]
Free Article
8.

Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.

Harzer K.

Clin Chim Acta. 1983 Nov 30;135(1):89-93. No abstract available.

PMID:
6228344
[PubMed - indexed for MEDLINE]
9.

Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2.

Yuziuk JA, Bertoni C, Beccari T, Orlacchio A, Wu YY, Li SC, Li YT.

J Biol Chem. 1998 Jan 2;273(1):66-72.

PMID:
9417048
[PubMed - indexed for MEDLINE]
Free Article
10.

Characterization of inducible models of Tay-Sachs and related disease.

Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.

PLoS Genet. 2012 Sep;8(9):e1002943. doi: 10.1371/journal.pgen.1002943. Epub 2012 Sep 20.

PMID:
23028353
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.

Charrow J, Binns HJ.

Clin Chim Acta. 1986 Apr 15;156(1):41-9.

PMID:
2938852
[PubMed - indexed for MEDLINE]
12.

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN.

J Mol Biol. 2003 Apr 11;327(5):1093-109.

PMID:
12662933
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

Chamoles NA, Blanco M, Gaggioli D, Casentini C.

Clin Chim Acta. 2002 Apr;318(1-2):133-7.

PMID:
11880123
[PubMed - indexed for MEDLINE]
14.

[Recent advances in molecular genetics of GM2 gangliosidosis].

Wakamatsu N.

Nihon Rinsho. 1995 Dec;53(12):2988-93. Review. Japanese.

PMID:
8577047
[PubMed - indexed for MEDLINE]
15.

Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses.

Kobayashi T, Goto I, Okada S, Orii T, Ohno K, Nakano T.

J Neurochem. 1992 Oct;59(4):1452-8.

PMID:
1402895
[PubMed - indexed for MEDLINE]
16.

Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.

Novak A, Callahan JW, Lowden JA.

Biochim Biophys Acta. 1994 Mar 2;1199(2):215-23. Erratum in: Biochim Biophys Acta 1995 Apr 13;1243(3):557.

PMID:
8123671
[PubMed - indexed for MEDLINE]
17.

Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain.

Neuenhofer S, Conzelmann E, Schwarzmann G, Egge H, Sandhoff K.

Biol Chem Hoppe Seyler. 1986 Mar;367(3):241-4.

PMID:
3707714
[PubMed - indexed for MEDLINE]
18.

Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.

Trasler J, Saberi F, Somani IH, Adamali HI, Huang JQ, Fortunato SR, Ritter G, Gu M, Aebersold R, Gravel RA, Hermo L.

Endocrinology. 1998 Jul;139(7):3280-8.

PMID:
9645704
[PubMed - indexed for MEDLINE]
19.

Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A.

Hoffman LM, Brooks SE, Amsterdam D, Oropello J, Schneck L.

J Neurosci Res. 1980;5(5):413-7.

PMID:
7441795
[PubMed - indexed for MEDLINE]
20.

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.

Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL.

Hum Mol Genet. 2002 May 15;11(11):1343-50.

PMID:
12019216
[PubMed - indexed for MEDLINE]
Free Article

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