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Results: 1 to 20 of 118

1.

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

Levit A, Nutman D, Osher E, Kamhi E, Navon R.

Mol Genet Metab. 2010 Jun;100(2):176-83. doi: 10.1016/j.ymgme.2010.03.010. Epub 2010 Mar 19.

PMID:
20363167
[PubMed - indexed for MEDLINE]
2.

A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.

Fernandes MJ, Hechtman P, Boulay B, Kaplan F.

Eur J Hum Genet. 1997 May-Jun;5(3):129-36.

PMID:
9272736
[PubMed - indexed for MEDLINE]
3.

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
4.

An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.

Richard MM, Erenberg G, Triggs-Raine BL.

Biochem Mol Med. 1995 Jun;55(1):74-6.

PMID:
7551830
[PubMed - indexed for MEDLINE]
5.

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L.

Hum Mol Genet. 1993 Jan;2(1):61-7. Erratum in: Hum Mol Genet 1993 Apr;2(4):496.

PMID:
8490625
[PubMed - indexed for MEDLINE]
6.

A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing.

Ozkara HA, Sandhoff K.

Brain Dev. 2003 Apr;25(3):203-6.

PMID:
12689701
[PubMed - indexed for MEDLINE]
7.

W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

Petroulakis E, Cao Z, Clarke JT, Mahuran DJ, Lee G, Triggs-Raine B.

Hum Mutat. 1998;11(6):432-42.

PMID:
9603435
[PubMed - indexed for MEDLINE]
8.

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar P, Patil S, Idicula-Thomas S, Gupta S, Sheth J.

PLoS One. 2012;7(6):e39122. doi: 10.1371/journal.pone.0039122. Epub 2012 Jun 18.

PMID:
22723944
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT, et al.

Hum Mutat. 1992;1(4):303-9.

PMID:
1301938
[PubMed - indexed for MEDLINE]
10.

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

Montfort M, Chabás A, Vilageliu L, Grinberg D.

Blood Cells Mol Dis. 2006 Jan-Feb;36(1):46-52. Epub 2005 Dec 2.

PMID:
16326120
[PubMed - indexed for MEDLINE]
11.

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Triggs-Raine BL, Akerman BR, Clarke JT, Gravel RA.

Am J Hum Genet. 1991 Nov;49(5):1041-54.

PMID:
1833974
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Nonsense-mediated decay of human HEXA mRNA.

Rajavel KS, Neufeld EF.

Mol Cell Biol. 2001 Aug;21(16):5512-9.

PMID:
11463833
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.

Boles DJ, Proia RL.

Am J Hum Genet. 1995 Mar;56(3):716-24.

PMID:
7887427
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.

Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL.

Am J Med Genet A. 2004 Jun 1;127A(2):158-66.

PMID:
15108204
[PubMed - indexed for MEDLINE]
15.

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

Drucker L, Hemli JA, Navon R.

Hum Mutat. 1997;10(6):451-7.

PMID:
9401008
[PubMed - indexed for MEDLINE]
16.

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A.

Genomics. 1991 Sep;11(1):124-34.

PMID:
1837283
[PubMed - indexed for MEDLINE]
17.

Novel Tay-Sachs disease mutations from China.

Akalin N, Shi HP, Vavougios G, Hechtman P, Lo W, Scriver CR, Mahuran D, Kaplan F.

Hum Mutat. 1992;1(1):40-6.

PMID:
1301190
[PubMed - indexed for MEDLINE]
18.
19.

Tay-Sachs disease in Jacob sheep.

Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH.

Mol Genet Metab. 2010 Dec;101(4):357-63. doi: 10.1016/j.ymgme.2010.08.006. Epub 2010 Aug 14.

PMID:
20817517
[PubMed - indexed for MEDLINE]
20.

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG.

Hum Mutat. 2005 Sep;26(3):282.

PMID:
16088929
[PubMed - indexed for MEDLINE]

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