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Items: 1 to 20 of 181

1.

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.

Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, Fabritius AL, Salonen T, Rapola J, Gentile M, Kopra O, Peltonen L.

Neurobiol Dis. 2005 Feb;18(1):226-41.

PMID:
15649713
2.
3.

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L.

Hum Mol Genet. 2004 Dec 1;13(23):2893-906. Epub 2004 Sep 30.

PMID:
15459177
4.

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice.

Virmani T, Gupta P, Liu X, Kavalali ET, Hofmann SL.

Neurobiol Dis. 2005 Nov;20(2):314-23.

PMID:
16242638
5.
6.

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.

7.

AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.

Griffey M, Macauley SL, Ogilvie JM, Sands MS.

Mol Ther. 2005 Sep;12(3):413-21.

8.

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.

9.

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.

Hum Mol Genet. 1998 Feb;7(2):291-7. Erratum in: Hum Mol Genet 1998 Apr;7(4):765.

PMID:
9425237
10.

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.

von Schantz C, Saharinen J, Kopra O, Cooper JD, Gentile M, Hovatta I, Peltonen L, Jalanko A.

BMC Genomics. 2008 Mar 28;9:146. doi: 10.1186/1471-2164-9-146.

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13.

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM.

Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018.

PMID:
19302939
14.

A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.

Sleat DE, Wiseman JA, El-Banna M, Kim KH, Mao Q, Price S, Macauley SL, Sidman RL, Shen MM, Zhao Q, Passini MA, Davidson BL, Stewart GR, Lobel P.

J Neurosci. 2004 Oct 13;24(41):9117-26.

15.

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.

Kielar C, Maddox L, Bible E, Pontikis CC, Macauley SL, Griffey MA, Wong M, Sands MS, Cooper JD.

Neurobiol Dis. 2007 Jan;25(1):150-62. Epub 2006 Oct 12.

17.

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.

Blom T, Schmiedt ML, Wong AM, Kyttälä A, Soronen J, Jauhiainen M, Tyynelä J, Cooper JD, Jalanko A.

Dis Model Mech. 2013 Mar;6(2):342-57. doi: 10.1242/dmm.010140. Epub 2012 Oct 12.

18.

The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.

Miller JN, Kovács AD, Pearce DA.

Hum Mol Genet. 2015 Jan 1;24(1):185-96. doi: 10.1093/hmg/ddu428. Epub 2014 Sep 8.

19.

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.

Pontikis CC, Cella CV, Parihar N, Lim MJ, Chakrabarti S, Mitchison HM, Mobley WC, Rezaie P, Pearce DA, Cooper JD.

Brain Res. 2004 Oct 15;1023(2):231-42.

PMID:
15374749
20.

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.

Lyly A, Marjavaara SK, Kyttälä A, Uusi-Rauva K, Luiro K, Kopra O, Martinez LO, Tanhuanpää K, Kalkkinen N, Suomalainen A, Jauhiainen M, Jalanko A.

Hum Mol Genet. 2008 May 15;17(10):1406-17. doi: 10.1093/hmg/ddn028. Epub 2008 Feb 1.

PMID:
18245779

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