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Items: 1 to 20 of 139

1.

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.

Sarkar C, Zhang Z, Mukherjee AB.

Mol Genet Metab. 2011 Nov;104(3):338-45. doi: 10.1016/j.ymgme.2011.05.021. Epub 2011 Jun 13.

2.

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.

3.

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.

4.

Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL.

Thada V, Miller JN, Kovács AD, Pearce DA.

J Cell Mol Med. 2016 Feb;20(2):381-5. doi: 10.1111/jcmm.12744. Epub 2015 Dec 9.

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.

Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

Kim SJ, Zhang Z, Lee YC, Mukherjee AB.

Hum Mol Genet. 2006 May 15;15(10):1580-6. Epub 2006 Mar 28.

PMID:
16571600
7.

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.

8.

Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders.

Chandra G, Bagh MB, Peng S, Saha A, Sarkar C, Moralle M, Zhang Z, Mukherjee AB.

Hum Mol Genet. 2015 Oct 1;24(19):5416-32. doi: 10.1093/hmg/ddv266. Epub 2015 Jul 9.

9.

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol.

Wei H, Zhang Z, Saha A, Peng S, Chandra G, Quezado Z, Mukherjee AB.

Hum Mol Genet. 2011 Mar 15;20(6):1111-21. doi: 10.1093/hmg/ddq555. Epub 2010 Dec 28.

11.

Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood.

Zhang Z, Butler JD, Levin SW, Wisniewski KE, Brooks SS, Mukherjee AB.

Nat Med. 2001 Apr;7(4):478-84.

PMID:
11283676
12.

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

Kim SJ, Zhang Z, Hitomi E, Lee YC, Mukherjee AB.

Hum Mol Genet. 2006 Jun 1;15(11):1826-34. Epub 2006 Apr 27.

PMID:
16644870
13.

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.

14.

Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis.

Sleat DE, Sohar I, Gin RM, Lobel P.

Eur J Paediatr Neurol. 2001;5 Suppl A:57-62.

PMID:
11589009
15.

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.

Wei H, Kim SJ, Zhang Z, Tsai PC, Wisniewski KE, Mukherjee AB.

Hum Mol Genet. 2008 Feb 15;17(4):469-77. Epub 2007 Nov 7.

PMID:
17989065
16.

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial.

Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafinia M, Blau H, Rivlin J, Aviram M, Elfring GL, Northcutt VJ, Miller LL, Kerem B, Wilschanski M.

Lancet. 2008 Aug 30;372(9640):719-27. doi: 10.1016/S0140-6736(08)61168-X. Epub 2008 Aug 20.

PMID:
18722008
17.

Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives.

Pibiri I, Lentini L, Melfi R, Gallucci G, Pace A, Spinello A, Barone G, Di Leonardo A.

Eur J Med Chem. 2015 Aug 28;101:236-44. doi: 10.1016/j.ejmech.2015.06.038. Epub 2015 Jun 21.

PMID:
26142488
18.

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
19.

[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].

Bi HY, Yao S, Bu DF, Wang ZX, Zhang Y, Qin J, Yang YL, Yuan Y.

Zhonghua Er Ke Za Zhi. 2006 Jul;44(7):496-9. Chinese.

PMID:
17044973
20.

Treatment of a methylmalonyl-CoA mutase stopcodon mutation.

Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.

Biochem Biophys Res Commun. 2012 Nov 2;427(4):753-7. doi: 10.1016/j.bbrc.2012.09.133. Epub 2012 Oct 4.

PMID:
23041189

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