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    Results: 1 to 20 of 35

    1.

    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]

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    2.

    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]

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    3.

    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

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    4.

    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

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    5.

    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]

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    6.

    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

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    7.

    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

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    8.

    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]

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    9.

    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]

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    10.

    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

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    11.

    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

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    12.

    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]

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    13.

    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]

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    14.

    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

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    15.

    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]

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    16.

    Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.

    Tancini B, Magini A, Latterini L, Urbanelli L, Ciccarone V, Elisei F, Emiliani C.

    Mol Cell Biochem. 2010 Feb;335(1-2):273-82. doi: 10.1007/s11010-009-0277-0. Epub 2009 Oct 2.

    PMID:
    19823769
    [PubMed - indexed for MEDLINE]

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    17.

    Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.

    Rountree JS, Butters TD, Wormald MR, Boomkamp SD, Dwek RA, Asano N, Ikeda K, Evinson EL, Nash RJ, Fleet GW.

    ChemMedChem. 2009 Mar;4(3):378-92. doi: 10.1002/cmdc.200800350.

    PMID:
    19145603
    [PubMed - indexed for MEDLINE]

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    18.

    Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease.

    Baek RC, Martin DR, Cox NR, Seyfried TN.

    Lipids. 2009 Mar;44(3):197-205. doi: 10.1007/s11745-008-3268-0. Epub 2008 Nov 26.

    PMID:
    19034545
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    19.

    A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.

    Wang SZ, Cachón-González MB, Stein PE, Lachmann RH, Corry PC, Wraith JE, Cox TM.

    Mol Genet Metab. 2008 Dec;95(4):236-8. doi: 10.1016/j.ymgme.2008.08.007. Epub 2008 Oct 18.

    PMID:
    18930675
    [PubMed - indexed for MEDLINE]

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    20.

    Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

    Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A.

    Neurogenetics. 2009 Feb;10(1):49-58. doi: 10.1007/s10048-008-0145-1. Epub 2008 Aug 29.

    PMID:
    18758829
    [PubMed - indexed for MEDLINE]

    Related citations

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