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Items: 1 to 20 of 153

1.

Lysosomal storage diseases--the horizon expands.

Boustany RM.

Nat Rev Neurol. 2013 Oct;9(10):583-98. doi: 10.1038/nrneurol.2013.163. Epub 2013 Aug 13. Review.

PMID:
23938739
2.

Lysosomal Storage Diseases-Regulating Neurodegeneration.

Onyenwoke RU, Brenman JE.

J Exp Neurosci. 2016 Apr 5;9(Suppl 2):81-91. doi: 10.4137/JEN.S25475. eCollection 2015. Review.

3.

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
4.

Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses.

Pierret C, Morrison JA, Kirk MD.

Acta Neurobiol Exp (Wars). 2008;68(3):429-42. Review.

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7.

You say lipofuscin, we say ceroid: defining autofluorescent storage material.

Seehafer SS, Pearce DA.

Neurobiol Aging. 2006 Apr;27(4):576-88. Epub 2006 Feb 7. Review.

PMID:
16455164
8.

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.

Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. doi: 1389-2010/11 $58.00+.00. Review.

9.

Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.

Zhong N.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):195-206. Review.

PMID:
11001811
10.

From Lysosomal Storage Diseases to NKT Cell Activation and Back.

Pereira CS, Ribeiro H, Macedo MF.

Int J Mol Sci. 2017 Feb 25;18(3). pii: E502. doi: 10.3390/ijms18030502. Review.

12.

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).

Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I.

Eur J Biochem. 2001 Nov;268(22):5851-6.

13.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A.

Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077.

14.

Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease.

Seehafer SS, Pearce DA.

Biochem Biophys Res Commun. 2009 May 1;382(2):247-51. doi: 10.1016/j.bbrc.2009.02.099. Epub 2009 Feb 25.

15.

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.

Ezaki J, Kominami E.

Brain Pathol. 2004 Jan;14(1):77-85. Review.

PMID:
14997940
16.

Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.

Kida E, Golabek AA, Wisniewski KE.

Adv Genet. 2001;45:35-68. Review.

PMID:
11332776
17.

[Lysosomal storage diseases--an overview].

Kloska A, Tylki-Szymańska A, Wegrzyn G.

Postepy Biochem. 2011;57(2):128-32. Review. Polish.

PMID:
21913413
18.

Batten disease: four genes and still counting.

Mole SE.

Neurobiol Dis. 1998 Nov;5(5):287-303. Review.

PMID:
10069573
19.

NCL diseases - clinical perspectives.

Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R.

Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.

20.

Towards understanding the neuronal ceroid lipofuscinoses.

Kohlschütter A, Schulz A.

Brain Dev. 2009 Aug;31(7):499-502. doi: 10.1016/j.braindev.2008.12.008. Epub 2009 Feb 4. Review.

PMID:
19195801

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