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Items: 1 to 20 of 136

1.

The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.

Chu-LaGraff Q, Blanchette C, O'Hern P, Denefrio C.

PLoS One. 2010 Dec 22;5(12):e14402. doi: 10.1371/journal.pone.0014402.

2.

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.

3.

Characterization of Drosophila palmitoyl-protein thioesterase 1.

Glaser RL, Hickey AJ, Chotkowski HL, Chu-LaGraff Q.

Gene. 2003 Jul 17;312:271-9.

PMID:
12909364
4.

An over-expression system for characterizing Ppt1 function in Drosophila.

Korey CA, MacDonald ME.

BMC Neurosci. 2003 Nov 20;4:30.

5.

Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.

Zhang Z, Lee YC, Kim SJ, Choi MS, Tsai PC, Xu Y, Xiao YJ, Zhang P, Heffer A, Mukherjee AB.

Hum Mol Genet. 2006 Jan 15;15(2):337-46. Epub 2005 Dec 20.

PMID:
16368712
6.

Histochemical localization of palmitoyl protein thioesterase-1 activity.

Dearborn JT, Ramachandran S, Shyng C, Lu JY, Thornton J, Hofmann SL, Sands MS.

Mol Genet Metab. 2016 Feb;117(2):210-6. doi: 10.1016/j.ymgme.2015.11.004. Epub 2015 Nov 11.

7.

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.

8.

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.

9.

Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

Shyng C, Sands MS.

Biochem Soc Trans. 2014 Oct;42(5):1282-5. doi: 10.1042/BST20140188.

PMID:
25233404
10.
11.

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
12.

Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice.

Kim SJ, Zhang Z, Sarkar C, Tsai PC, Lee YC, Dye L, Mukherjee AB.

J Clin Invest. 2008 Sep;118(9):3075-86. doi: 10.1172/JCI33482.

13.

Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.

Ahtiainen L, Luiro K, Kauppi M, Tyynelä J, Kopra O, Jalanko A.

Exp Cell Res. 2006 May 15;312(9):1540-53. Epub 2006 Mar 20.

PMID:
16542649
14.

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.

15.

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.

16.

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.

17.

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.

Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O'Brien DP, Hofmann SL, Lu JY, Katz ML.

Mol Genet Metab. 2010 Aug;100(4):349-56. doi: 10.1016/j.ymgme.2010.04.009. Epub 2010 Apr 24.

18.

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.

19.

Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells.

Scifo E, Szwajda A, Soliymani R, Pezzini F, Bianchi M, Dapkunas A, Dębski J, Uusi-Rauva K, Dadlez M, Gingras AC, Tyynelä J, Simonati A, Jalanko A, Baumann MH, Lalowski M.

J Proteomics. 2015 Jun 18;123:42-53. doi: 10.1016/j.jprot.2015.03.038. Epub 2015 Apr 10.

PMID:
25865307
20.

Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.

Lu JY, Nelvagal HR, Wang L, Birnbaum SG, Cooper JD, Hofmann SL.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):98-105. doi: 10.1016/j.ymgme.2015.05.005. Epub 2015 May 12.

PMID:
25982063

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