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Related Citations for PubMed (Select 23402926)

1.

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins.

Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T.

Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. Review.

2.

Neuronal ceroid lipofuscinoses.

Jalanko A, Braulke T.

Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10.1016/j.bbamcr.2008.11.004. Epub 2008 Nov 24. Review.

3.

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.

4.

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S, Stránecký V, Emes RD, Mitchison HM.

Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Epub 2012 Dec 26. Review.

5.

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.

6.

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.

Getty AL, Pearce DA.

Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi: 10.1007/s00018-010-0468-6. Epub 2010 Aug 1. Review.

7.

Biochemistry of neuronal ceroid lipofuscinoses.

Junaid MA, Pullarkat RK.

Adv Genet. 2001;45:93-106. Review.

PMID:
11332778
8.

Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.

Kida E, Golabek AA, Wisniewski KE.

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

PMID:
11332776
9.

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

Cooper JD, Russell C, Mitchison HM.

Biochim Biophys Acta. 2006 Oct;1762(10):873-89. Epub 2006 Aug 10. Review.

10.

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
11.

The neuronal ceroid-lipofuscinoses.

Bennett MJ, Rakheja D.

Dev Disabil Res Rev. 2013;17(3):254-9. doi: 10.1002/ddrr.1118. Review.

PMID:
23798013
12.

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE, Mitchison HM, Munroe PB.

Hum Mutat. 1999;14(3):199-215. Review.

PMID:
10477428
13.

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.

Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S.

Neurobiol Dis. 2014 May;65:12-24. doi: 10.1016/j.nbd.2014.01.003. Epub 2014 Jan 11.

PMID:
24423645
14.

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

Warrier V, Vieira M, Mole SE.

Biochim Biophys Acta. 2013 Nov;1832(11):1827-30. doi: 10.1016/j.bbadis.2013.03.017. Epub 2013 Mar 28. Review.

15.

Human pathology in NCL.

Anderson GW, Goebel HH, Simonati A.

Biochim Biophys Acta. 2013 Nov;1832(11):1807-26. doi: 10.1016/j.bbadis.2012.11.014. Epub 2012 Nov 29. Review.

16.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.

Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipilä T, Jalanko A, Kyttälä A.

BMC Cell Biol. 2009 Nov 26;10:83. doi: 10.1186/1471-2121-10-83.

17.

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.

Weimer JM, Kriscenski-Perry E, Elshatory Y, Pearce DA.

Neuromolecular Med. 2002;1(2):111-24. Review.

PMID:
12025857
18.

Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis.

Bartsch U, Galliciotti G, Jofre GF, Jankowiak W, Hagel C, Braulke T.

Invest Ophthalmol Vis Sci. 2013 Oct 23;54(10):6952-9. doi: 10.1167/iovs.13-12945.

19.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.

Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.

PMID:
19309691
20.

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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