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Results: 1 to 20 of 236

1.

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

Bolhuis PA, Ponne NJ, Bikker H, Baas F, Vianney de Jong JM.

Biochim Biophys Acta. 1993 Sep 8;1182(2):142-6.

PMID:
8357844
[PubMed - indexed for MEDLINE]
4.
5.

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.

Yoshizawa T, Kohno Y, Nissato S, Shoji S.

J Neurol Sci. 2002 Mar 30;195(2):129-38.

PMID:
11897243
[PubMed - indexed for MEDLINE]
6.

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.

Biochim Biophys Acta. 1992 Apr 14;1138(4):315-7.

PMID:
1532910
[PubMed - indexed for MEDLINE]
7.

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L.

J Biol Chem. 1990 May 5;265(13):7324-30.

PMID:
2139660
[PubMed - indexed for MEDLINE]
Free Article
8.

Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF.

J Biol Chem. 1990 Jun 5;265(16):9452-7.

PMID:
2140574
[PubMed - indexed for MEDLINE]
Free Article
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.

J Biol Chem. 1986 Sep 25;261(27):12680-5.

PMID:
3017984
[PubMed - indexed for MEDLINE]
Free Article
10.

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.

Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H.

Biochem Biophys Res Commun. 1995 Jul 17;212(2):564-71.

PMID:
7626071
[PubMed - indexed for MEDLINE]
11.

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Neote K, McInnes B, Mahuran DJ, Gravel RA.

J Clin Invest. 1990 Nov;86(5):1524-31.

PMID:
2147027
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G.

Hum Genet. 1998 Oct;103(4):462-9.

PMID:
9856491
[PubMed - indexed for MEDLINE]
13.

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S.

J Biol Chem. 1992 Feb 5;267(4):2406-13.

PMID:
1531140
[PubMed - indexed for MEDLINE]
Free Article
14.

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

Brown CA, McInnes B, de Kremer RD, Mahuran DJ.

Biochim Biophys Acta. 1992 Oct 13;1180(1):91-8.

PMID:
1390948
[PubMed - indexed for MEDLINE]
15.

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

Mitsuo K, Nakano T, Kobayashi T, Goto I, Taniike M, Suzuki K.

J Neurol Sci. 1990 Sep;98(2-3):277-86.

PMID:
2147031
[PubMed - indexed for MEDLINE]
16.

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
17.

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.

Dlott B, d'Azzo A, Quon DV, Neufeld EF.

J Biol Chem. 1990 Oct 15;265(29):17921-7.

PMID:
2170400
[PubMed - indexed for MEDLINE]
Free Article
18.

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.

Zhang ZX, Wakamatsu N, Mules EH, Thomas GH, Gravel RA.

Hum Mol Genet. 1994 Jan;3(1):139-45.

PMID:
8162015
[PubMed - indexed for MEDLINE]
19.

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P.

Hum Mutat. 1992;1(1):35-9.

PMID:
1301189
[PubMed - indexed for MEDLINE]
20.

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

O'Dowd BF, Quan F, Willard HF, Lamhonwah AM, Korneluk RG, Lowden JA, Gravel RA, Mahuran DJ.

Proc Natl Acad Sci U S A. 1985 Feb;82(4):1184-8.

PMID:
2579389
[PubMed - indexed for MEDLINE]
Free PMC Article

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