Mahuran DJ - Search Results

1

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T. Redonnet-Vernhet I, et al. Among authors: mahuran dj. Biochim Biophys Acta. 1996 Nov 15;1317(2):127-33. doi: 10.1016/s0925-4439(96)00044-0. Biochim Biophys Acta. 1996. PMID: 8950198 Free article.

2

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.

Brown CA, McInnes B, de Kremer RD, Mahuran DJ. Brown CA, et al. Among authors: mahuran dj. Biochim Biophys Acta. 1992 Oct 13;1180(1):91-8. doi: 10.1016/0925-4439(92)90031-h. Biochim Biophys Acta. 1992. PMID: 1390948

3

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.

McInnes B, Brown CA, Mahuran DJ. McInnes B, et al. Among authors: mahuran dj. Biochim Biophys Acta. 1992 Apr 14;1138(4):315-7. doi: 10.1016/0925-4439(92)90009-c. Biochim Biophys Acta. 1992. PMID: 1532910

4

Biochemical consequences of mutations causing the GM2 gangliosidoses.

Mahuran DJ. Mahuran DJ. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. doi: 10.1016/s0925-4439(99)00074-5. Biochim Biophys Acta. 1999. PMID: 10571007 Free article. Review.

5

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

Mahuran DJ. Mahuran DJ. Biochim Biophys Acta. 1991 Feb 22;1096(2):87-94. doi: 10.1016/0925-4439(91)90044-a. Biochim Biophys Acta. 1991. PMID: 1825792 Review. No abstract available.

6

A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.

Sharma R, Bukovac S, Callahan J, Mahuran D. Sharma R, et al. Biochim Biophys Acta. 2003 Jan 20;1637(1):113-8. doi: 10.1016/s0925-4439(02)00221-1. Biochim Biophys Acta. 2003. PMID: 12527415 Free PMC article.

7

Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay.

Smiljanic-Georgijev N, Rigat B, Xie B, Wang W, Mahuran DJ. Smiljanic-Georgijev N, et al. Among authors: mahuran dj. Biochim Biophys Acta. 1997 May 23;1339(2):192-202. doi: 10.1016/s0167-4838(97)00002-2. Biochim Biophys Acta. 1997. PMID: 9187239

8

The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein.

Mahuran DJ. Mahuran DJ. Biochim Biophys Acta. 1998 Jul 31;1393(1):1-18. doi: 10.1016/s0005-2760(98)00057-5. Biochim Biophys Acta. 1998. PMID: 9714704 Review.

9

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

O'Dowd BF, Klavins MH, Willard HF, Gravel R, Lowden JA, Mahuran DJ. O'Dowd BF, et al. Among authors: mahuran dj. J Biol Chem. 1986 Sep 25;261(27):12680-5. J Biol Chem. 1986. PMID: 3017984 Free article.

10

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. Hou Y, et al. J Biol Chem. 1998 Aug 14;273(33):21386-92. doi: 10.1074/jbc.273.33.21386. J Biol Chem. 1998. PMID: 9694901 Free article.

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