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Results: 1 to 20 of 38

1.

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.

Yasui N, Takaoka Y, Nishio H, Nurputra DK, Sekiguchi K, Hamaguchi H, Kowa H, Maeda E, Sugano A, Miura K, Sakaeda T, Kanda F, Toda T.

J Hum Genet. 2013 Sep;58(9):611-7. doi: 10.1038/jhg.2013.68. Epub 2013 Jun 13.

PMID:
23759947
[PubMed - indexed for MEDLINE]
2.

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.

Abo-Ouf H, Hooper AW, White EJ, van Rensburg HJ, Trigatti BL, Igdoura SA.

Hum Mol Genet. 2013 Oct 1;22(19):3960-75. doi: 10.1093/hmg/ddt250. Epub 2013 May 31.

PMID:
23727835
[PubMed - indexed for MEDLINE]
3.

Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.

Yamada K, Takado Y, Kato YS, Yamada Y, Ishiguro H, Wakamatsu N.

J Biochem. 2013 Jan;153(1):111-9. doi: 10.1093/jb/mvs131. Epub 2012 Nov 5.

PMID:
23127958
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.

Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C.

Gene. 2013 Jan 10;512(2):521-6. doi: 10.1016/j.gene.2012.09.124. Epub 2012 Oct 6.

PMID:
23046579
[PubMed - indexed for MEDLINE]
5.

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
6.

Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.

Kyrkanides S, Brouxhon SM, Tallents RH, Miller JN, Olschowka JA, O'Banion MK.

J Neuroinflammation. 2012 Aug 4;9:186.

PMID:
22863301
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A.

PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27.

PMID:
22848519
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L, de Olano N, Macías-Vidal J, Coll MA; Spanish GM2 Working Group.

Gene. 2012 Sep 10;506(1):25-30. Epub 2012 Jul 10.

PMID:
22789865
[PubMed - indexed for MEDLINE]
9.

Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide.

Keilani S, Lun Y, Stevens AC, Williams HN, Sjoberg ER, Khanna R, Valenzano KJ, Checler F, Buxbaum JD, Yanagisawa K, Lockhart DJ, Wustman BA, Gandy S.

J Neurosci. 2012 Apr 11;32(15):5223-36. doi: 10.1523/JNEUROSCI.4860-11.2012.

PMID:
22496568
[PubMed - indexed for MEDLINE]
Free Article
10.

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
11.

A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.

Fitterer BB, Antonishyn NA, Hall PL, Lehotay DC.

Genet Test Mol Biomarkers. 2012 May;16(5):401-5. doi: 10.1089/gtmb.2011.0215. Epub 2011 Dec 22.

PMID:
22191674
[PubMed - indexed for MEDLINE]
12.

Teaching NeuroImages: MRI in infantile Sandhoff disease.

Seshadri R, Christopher R, Arvinda HR.

Neurology. 2011 Aug 2;77(5):e34. doi: 10.1212/WNL.0b013e318227b215. No abstract available.

PMID:
21810694
[PubMed - indexed for MEDLINE]
13.

A case report of Sandhoff disease.

Saouab R, Mahi M, Abilkacem R, Boumdin H, Chaouir S, Agader O, Amil T, Hanine A.

Clin Neuroradiol. 2011 Jun;21(2):83-5. doi: 10.1007/s00062-010-0035-4. Epub 2010 Dec 10.

PMID:
21153386
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.

Ahn SW, Kim SH, Hong YH, Lee KW, Sung JJ.

Neurol India. 2010 Nov-Dec;58(6):950-1. doi: 10.4103/0028-3886.73755. No abstract available.

PMID:
21150067
[PubMed - indexed for MEDLINE]
Free Article
15.

Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization.

Sakpichaisakul K, Taeranawich P, Nitiapinyasakul A, Sirisopikun T.

J Med Assoc Thai. 2010 Sep;93(9):1088-92.

PMID:
20873083
[PubMed - indexed for MEDLINE]
16.

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.

Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S355-61. doi: 10.1007/s10545-010-9186-3. Epub 2010 Sep 4.

PMID:
20821051
[PubMed - indexed for MEDLINE]
17.

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

Delnooz CC, Lefeber DJ, Langemeijer SM, Hoffjan S, Dekomien G, Zwarts MJ, Van Engelen BG, Wevers RA, Schelhaas HJ, van de Warrenburg BP.

J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):968-72. doi: 10.1136/jnnp.2009.177089.

PMID:
20798201
[PubMed - indexed for MEDLINE]
18.

Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease.

Matsuoka K, Tsuji D, Aikawa S, Matsuzawa F, Sakuraba H, Itoh K.

Mol Ther. 2010 Aug;18(8):1519-26. doi: 10.1038/mt.2010.113. Epub 2010 Jun 22.

PMID:
20571546
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?

Batista L, Miller F, Clave C, Arfi A, Douillard-Guilloux G, Couraud PO, Caillaud C.

Neurobiol Dis. 2010 Mar;37(3):656-60. doi: 10.1016/j.nbd.2009.12.001. Epub 2009 Dec 18.

PMID:
20005954
[PubMed - indexed for MEDLINE]
20.

Miglustat therapy in juvenile Sandhoff disease.

Tallaksen CM, Berg JE.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S289-93. doi: 10.1007/s10545-009-1224-7. Epub 2009 Nov 4.

PMID:
19898953
[PubMed - indexed for MEDLINE]

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