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Volumn 2, Issue 8, 2007, Pages

Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo Syndrome type B

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; B WAVE; C57BL 6 MOUSE; CELL COUNT; CIRCADIAN RHYTHM; CONTROLLED STUDY; COORDINATION DISORDER; DISEASE COURSE; ELECTRORETINOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; HAIR CELL; HEARING LOSS; HISTOPATHOLOGY; INNER EAR; LOCOMOTION; MIDDLE EAR; MOTOR PERFORMANCE; MOUSE; NONHUMAN; PHENOTYPIC VARIATION; PIGMENT EPITHELIUM; PURKINJE CELL; ROTAROD TEST; SANFILIPPO SYNDROME; SUPRACHIASMATIC NUCLEUS; WILD TYPE;

EID: 40749147092     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0000772     Document Type: Article
Times cited : (77)

References (39)
  • 1
    • 0021084827 scopus 로고
    • Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: An epidemiological study
    • Nidiffer FD, Kelly TE (1983) Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res 27(Pt 3): 185-203.
    • (1983) J Ment Defic Res , vol.27 , Issue.PART 3 , pp. 185-203
    • Nidiffer, F.D.1    Kelly, T.E.2
  • 2
    • 0029023563 scopus 로고
    • Behaviour in mucopolysaccharide disorders
    • Bax MC, Colville GA (1995) Behaviour in mucopolysaccharide disorders. Arch Dis Child 73: 77-81.
    • (1995) Arch Dis Child , vol.73 , pp. 77-81
    • Bax, M.C.1    Colville, G.A.2
  • 6
    • 0015020587 scopus 로고
    • Further electroretinographic studies of patients with mucopolysacharidoses
    • Leung LS, Weinstein GW, Hobson RR (1971) Further electroretinographic studies of patients with mucopolysacharidoses. Birth Defects Orig Artic Ser 7: 32-40.
    • (1971) Birth Defects Orig Artic Ser , vol.7 , pp. 32-40
    • Leung, L.S.1    Weinstein, G.W.2    Hobson, R.R.3
  • 8
    • 0018957175 scopus 로고
    • Pathologic findings in mucopolysaccharidosis type IIIB (Sanfilippo's sydnrome B)
    • Hadfield MG, Ghatak NR, Nakoneczna I, Lippman HR, Myer EC, et al. (1980) Pathologic findings in mucopolysaccharidosis type IIIB (Sanfilippo's sydnrome B). Arch Neurol 37: 645-650.
    • (1980) Arch Neurol , vol.37 , pp. 645-650
    • Hadfield, M.G.1    Ghatak, N.R.2    Nakoneczna, I.3    Lippman, H.R.4    Myer, E.C.5
  • 9
    • 0023683825 scopus 로고
    • Focal dendritic swellings in Purkinje cells in mucopolysaccharidoses types I, II and III. A Golgi and ultrastructural study
    • Ferrer I, Cusi V, Pineda M, Galofre E, Vila J (1988) Focal dendritic swellings in Purkinje cells in mucopolysaccharidoses types I, II and III. A Golgi and ultrastructural study. Neuropathol Appl Neurobiol 14: 315-323.
    • (1988) Neuropathol Appl Neurobiol , vol.14 , pp. 315-323
    • Ferrer, I.1    Cusi, V.2    Pineda, M.3    Galofre, E.4    Vila, J.5
  • 10
    • 10744232302 scopus 로고    scopus 로고
    • A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs
    • Ellinwood NM, Wang P, Skeen T, Sharp NJ, Cesta M, et al. (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26: 489-504.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 489-504
    • Ellinwood, N.M.1    Wang, P.2    Skeen, T.3    Sharp, N.J.4    Cesta, M.5
  • 11
    • 0032719681 scopus 로고    scopus 로고
    • Clinical and neuroradiological follow-up in mucopolysacrharidosis type III (Sanfilippo syndrome)
    • Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, et al. (1999) Clinical and neuroradiological follow-up in mucopolysacrharidosis type III (Sanfilippo syndrome). Neuropediatrics 30: 270-274.
    • (1999) Neuropediatrics , vol.30 , pp. 270-274
    • Barone, R.1    Nigro, F.2    Triulzi, F.3    Musumeci, S.4    Fiumara, A.5
  • 12
    • 0020604867 scopus 로고
    • Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B
    • Lavery MA, Green WR, Jabs EW, Luckenbach MW, Cox JL (1983) Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B. Arch Ophthalmol 101: 1263-1274.
    • (1983) Arch Ophthalmol , vol.101 , pp. 1263-1274
    • Lavery, M.A.1    Green, W.R.2    Jabs, E.W.3    Luckenbach, M.W.4    Cox, J.L.5
  • 13
    • 0018400263 scopus 로고
    • Sanfilippo B syndrome (MPS III B): Mild and severe forms within the same sibship
    • Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P (1979) Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. Clin Genet 15: 500-504.
    • (1979) Clin Genet , vol.15 , pp. 500-504
    • Andria, G.1    Di Natale, P.2    Del Giudice, E.3    Strisciuglio, P.4    Murino, P.5
  • 14
    • 0019406297 scopus 로고
    • Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A; B, and C)
    • van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A; B, and C). Clin Genet 20: 152-160.
    • (1981) Clin Genet , vol.20 , pp. 152-160
    • van de Kamp, J.J.1    Niermeijer, M.F.2    von Figura, K.3    Giesberts, M.A.4
  • 15
    • 0023616840 scopus 로고
    • Follow-up on seven adult patients with mild Sanfilippo B-disease
    • van Schrojenstein-de Valk HM, van de Kamp JJ (1987) Follow-up on seven adult patients with mild Sanfilippo B-disease. Am J Med Genet 28: 125-129.
    • (1987) Am J Med Genet , vol.28 , pp. 125-129
    • van Schrojenstein-de Valk, H.M.1    van de Kamp, J.J.2
  • 16
    • 0034670152 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type IIIB: Characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient
    • Yogalingam G, Weber B, Meehan J, Rogers J, Hopwood JJ (2000) Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. Biochim Biophys Acta 1502: 415-425.
    • (2000) Biochim Biophys Acta , vol.1502 , pp. 415-425
    • Yogalingam, G.1    Weber, B.2    Meehan, J.3    Rogers, J.4    Hopwood, J.J.5
  • 17
    • 0027487001 scopus 로고
    • Management of mucopolysaccharidosis type III
    • Cleary MA, Wraith JE (1993) Management of mucopolysaccharidosis type III. Arch Dis Child 69: 403-406.
    • (1993) Arch Dis Child , vol.69 , pp. 403-406
    • Cleary, M.A.1    Wraith, J.E.2
  • 18
    • 0036644974 scopus 로고    scopus 로고
    • Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B
    • Li HH, Zhao HZ, Neufeld EF, Cai Y, Gomez-Pinilla F (2002) Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B. J Neurosci Res 69: 30-38.
    • (2002) J Neurosci Res , vol.69 , pp. 30-38
    • Li, H.H.1    Zhao, H.Z.2    Neufeld, E.F.3    Cai, Y.4    Gomez-Pinilla, F.5
  • 20
    • 0013451138 scopus 로고    scopus 로고
    • Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase
    • Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, et al. (1999) Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A 96: 14505-14510.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 14505-14510
    • Li, H.H.1    Yu, W.H.2    Rozengurt, N.3    Zhao, H.Z.4    Lyons, K.M.5
  • 21
    • 8544258806 scopus 로고    scopus 로고
    • Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum
    • Cressant A, Desmaris N, Verot L, Brejot T, Froissart R, et al. (2004) Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci 24: 10229-10239.
    • (2004) J Neurosci , vol.24 , pp. 10229-10239
    • Cressant, A.1    Desmaris, N.2    Verot, L.3    Brejot, T.4    Froissart, R.5
  • 22
    • 0021958406 scopus 로고
    • 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
    • Marsh J, Fensom AH (1983) 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 27: 258-262.
    • (1983) Clin Genet , vol.27 , pp. 258-262
    • Marsh, J.1    Fensom, A.H.2
  • 23
    • 0018863107 scopus 로고
    • Strain-specific variations in the folial pattern of the mouse cerebellum
    • Inouye M, Oda SI (1980) Strain-specific variations in the folial pattern of the mouse cerebellum. J Comp Neurol 190: 357-362.
    • (1980) J Comp Neurol , vol.190 , pp. 357-362
    • Inouye, M.1    Oda, S.I.2
  • 24
    • 0345826009 scopus 로고    scopus 로고
    • Temporal precision in the mammalian circadian system: A reliable clock from less reliable neurons
    • Herzog ED, Aton SJ, Numano, R, Sakaki Y, Tei H (2004) Temporal precision in the mammalian circadian system: a reliable clock from less reliable neurons. J Biol Rhythms 19: 35-46.
    • (2004) J Biol Rhythms , vol.19 , pp. 35-46
    • Herzog, E.D.1    Aton, S.J.2    Numano, R.3    Sakaki, Y.4    Tei, H.5
  • 25
    • 0033710228 scopus 로고    scopus 로고
    • Retinal function is improved in a murine model of a lysosomal storage disease bone marrow transplantation
    • Ohlemiller KK, Vogler CA, Roberts M, Galvin N, Sands MS (2000) Retinal function is improved in a murine model of a lysosomal storage disease bone marrow transplantation. Exp Eye Res 71: 469-481.
    • (2000) Exp Eye Res , vol.71 , pp. 469-481
    • Ohlemiller, K.K.1    Vogler, C.A.2    Roberts, M.3    Galvin, N.4    Sands, M.S.5
  • 26
    • 3042812075 scopus 로고    scopus 로고
    • AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice
    • Hennig AK, Ogilvie JM, Ohlemiller KK, Timmers AM, Hauswirth WW, et al. (2004) AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice. Mol Ther 10: 106-116.
    • (2004) Mol Ther , vol.10 , pp. 106-116
    • Hennig, A.K.1    Ogilvie, J.M.2    Ohlemiller, K.K.3    Timmers, A.M.4    Hauswirth, W.W.5
  • 27
    • 0018248473 scopus 로고
    • Suprachiasmatic nucleus responsiveness to photic and basal hypothalamic stimulation
    • Kreisel B, Conforti N, Gutnick M, Feldman S (1978) Suprachiasmatic nucleus responsiveness to photic and basal hypothalamic stimulation. Brain Res Bull 3: 707-714.
    • (1978) Brain Res Bull , vol.3 , pp. 707-714
    • Kreisel, B.1    Conforti, N.2    Gutnick, M.3    Feldman, S.4
  • 28
    • 33745586553 scopus 로고    scopus 로고
    • Strain background effects and genetic modifiers of hearing in mice
    • Johnson KR, Zheng QY, Noben-Trauth K (2006) Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091: 79-88.
    • (2006) Brain Res , vol.1091 , pp. 79-88
    • Johnson, K.R.1    Zheng, Q.Y.2    Noben-Trauth, K.3
  • 29
    • 0345268640 scopus 로고    scopus 로고
    • Sleep disturbance in mucopolysacharidosis type III(Sanfilippo syndrome): A survey of managing clinicians
    • Fraser J, Wraith JE, Delatycki MB (2002) Sleep disturbance in mucopolysacharidosis type III(Sanfilippo syndrome): a survey of managing clinicians. Clin Genet 62: 418-421.
    • (2002) Clin Genet , vol.62 , pp. 418-421
    • Fraser, J.1    Wraith, J.E.2    Delatycki, M.B.3
  • 30
    • 28444479825 scopus 로고    scopus 로고
    • Fraser J. Gason AA, Wraith JE, Delatycki MB (2605) Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child 90: 1239-1242.
    • Fraser J. Gason AA, Wraith JE, Delatycki MB (2605) Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child 90: 1239-1242.
  • 31
    • 1542297684 scopus 로고    scopus 로고
    • Targeted microlesions reveal novel organization of the hamster suprachiasmatic nucleus
    • Kriegsfeld LJ, LeSauter J, Silver R (2004) Targeted microlesions reveal novel organization of the hamster suprachiasmatic nucleus. J Neurosci 24: 2449-2457.
    • (2004) J Neurosci , vol.24 , pp. 2449-2457
    • Kriegsfeld, L.J.1    LeSauter, J.2    Silver, R.3
  • 33
    • 84879796698 scopus 로고    scopus 로고
    • Gorlin R (1995) Genetic hearing loss associated with endocrine and metabolic disorders. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary Hearing Loss and its Syndromes. Oxford Monographs on Medical Genetics, No. 28. New York: Oxford University Press. pp 318-354.
    • Gorlin R (1995) Genetic hearing loss associated with endocrine and metabolic disorders. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary Hearing Loss and its Syndromes. Oxford Monographs on Medical Genetics, Vol No. 28. New York: Oxford University Press. pp 318-354.
  • 35
    • 0033515007 scopus 로고    scopus 로고
    • Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease
    • Daly TM, Vogler C, Levy B, Haskins ME, Sands MS (1999) Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc Natl Acad Sci U S A 96: 2296-2300.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 2296-2300
    • Daly, T.M.1    Vogler, C.2    Levy, B.3    Haskins, M.E.4    Sands, M.S.5
  • 37
    • 0036174123 scopus 로고    scopus 로고
    • Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease
    • Monroy MA, Ross FP, Teitelbaum SL, Sands MS (2002) Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. Bone 30: 352-359.
    • (2002) Bone , vol.30 , pp. 352-359
    • Monroy, M.A.1    Ross, F.P.2    Teitelbaum, S.L.3    Sands, M.S.4
  • 39
    • 33646707019 scopus 로고    scopus 로고
    • The light-activated signaling pathway in SCN-projecting rat retinal ganglion cells
    • Warren EJ, Allen CN, Brown RL, Robinson DW (2006) The light-activated signaling pathway in SCN-projecting rat retinal ganglion cells. Eur J Neurosci 23: 2477-2487.
    • (2006) Eur J Neurosci , vol.23 , pp. 2477-2487
    • Warren, E.J.1    Allen, C.N.2    Brown, R.L.3    Robinson, D.W.4


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