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Results: 1 to 20 of 125

1.

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.

Hu J, Lu JY, Wong AM, Hynan LS, Birnbaum SG, Yilmaz DS, Streit BM, Lenartowicz EM, Thompson TC, Cooper JD, Hofmann SL.

Mol Genet Metab. 2012 Sep;107(1-2):213-21. doi: 10.1016/j.ymgme.2012.05.009. Epub 2012 May 22.

PMID:
22704978
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis.

Lu JY, Hu J, Hofmann SL.

Mol Genet Metab. 2010 Apr;99(4):374-8. doi: 10.1016/j.ymgme.2009.12.002. Epub 2009 Dec 5.

PMID:
20036592
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis.

Macauley SL, Roberts MS, Wong AM, McSloy F, Reddy AS, Cooper JD, Sands MS.

Ann Neurol. 2012 Jun;71(6):797-804. doi: 10.1002/ana.23545. Epub 2012 Feb 24.

PMID:
22368049
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera.

Galvin N, Vogler C, Levy B, Kovacs A, Griffey M, Sands MS.

Pediatr Dev Pathol. 2008 May-Jun;11(3):185-92. Epub 2007 May 23.

PMID:
17990914
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.

Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL.

Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13566-71.

PMID:
11717424
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Treatment of the Ppt1(-/-) mouse model of infantile neuronal ceroid lipofuscinosis with the N-methyl-D-aspartate (NMDA) receptor antagonist memantine.

Finn R, Kovács AD, Pearce DA.

J Child Neurol. 2013 Sep;28(9):1159-68. doi: 10.1177/0883073813494480.

PMID:
24014511
[PubMed - indexed for MEDLINE]
7.

Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis.

Griffey M, Bible E, Vogler C, Levy B, Gupta P, Cooper J, Sands MS.

Neurobiol Dis. 2004 Jul;16(2):360-9.

PMID:
15193292
[PubMed - indexed for MEDLINE]
8.

CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.

Griffey MA, Wozniak D, Wong M, Bible E, Johnson K, Rothman SM, Wentz AE, Cooper JD, Sands MS.

Mol Ther. 2006 Mar;13(3):538-47. Epub 2005 Dec 20.

PMID:
16364693
[PubMed - indexed for MEDLINE]
9.

Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis.

Tamaki SJ, Jacobs Y, Dohse M, Capela A, Cooper JD, Reitsma M, He D, Tushinski R, Belichenko PV, Salehi A, Mobley W, Gage FH, Huhn S, Tsukamoto AS, Weissman IL, Uchida N.

Cell Stem Cell. 2009 Sep 4;5(3):310-9. doi: 10.1016/j.stem.2009.05.022.

PMID:
19733542
[PubMed - indexed for MEDLINE]
Free Article
10.

Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

Sands MS.

J Child Neurol. 2013 Sep;28(9):1151-8. doi: 10.1177/0883073813495960.

PMID:
24014510
[PubMed - indexed for MEDLINE]
11.

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol.

Saha A, Sarkar C, Singh SP, Zhang Z, Munasinghe J, Peng S, Chandra G, Kong E, Mukherjee AB.

Hum Mol Genet. 2012 May 15;21(10):2233-44. doi: 10.1093/hmg/dds038. Epub 2012 Feb 13.

PMID:
22331300
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.

Hickey AJ, Chotkowski HL, Singh N, Ault JG, Korey CA, MacDonald ME, Glaser RL.

Genetics. 2006 Apr;172(4):2379-90. Epub 2006 Feb 1.

PMID:
16452138
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.

Gupta P, Soyombo AA, Shelton JM, Wilkofsky IG, Wisniewski KE, Richardson JA, Hofmann SL.

Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12325-30. Epub 2003 Oct 3.

PMID:
14528005
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Neuroprotection and lifespan extension in Ppt1(-/-) mice by NtBuHA: therapeutic implications for INCL.

Sarkar C, Chandra G, Peng S, Zhang Z, Liu A, Mukherjee AB.

Nat Neurosci. 2013 Nov;16(11):1608-17. doi: 10.1038/nn.3526. Epub 2013 Sep 22.

PMID:
24056696
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

Hawkins-Salsbury JA, Cooper JD, Sands MS.

Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10.1016/j.bbadis.2013.05.026. Epub 2013 Jun 6. Review.

PMID:
23747979
[PubMed - indexed for MEDLINE]
17.

Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.

Roberts MS, Macauley SL, Wong AM, Yilmas D, Hohm S, Cooper JD, Sands MS.

J Inherit Metab Dis. 2012 Sep;35(5):847-57. doi: 10.1007/s10545-011-9446-x. Epub 2012 Feb 7.

PMID:
22310926
[PubMed - indexed for MEDLINE]
18.

Altered glutamate receptor function in the cerebellum of the Ppt1-/- mouse, a murine model of infantile neuronal ceroid lipofuscinosis.

Finn R, Kovács AD, Pearce DA.

J Neurosci Res. 2012 Feb;90(2):367-75. doi: 10.1002/jnr.22763. Epub 2011 Oct 4.

PMID:
21971706
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy.

Munasinghe J, Zhang Z, Kong E, Heffer A, Mukherjee AB.

Neurodegener Dis. 2012;9(4):159-69. doi: 10.1159/000334838. Epub 2012 Feb 9.

PMID:
22327870
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.

Macauley SL, Pekny M, Sands MS.

J Neurosci. 2011 Oct 26;31(43):15575-85. doi: 10.1523/JNEUROSCI.3579-11.2011.

PMID:
22031903
[PubMed - indexed for MEDLINE]
Free PMC Article

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