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Items: 1 to 20 of 86

1.

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T.

Hum Mutat. 2010 Feb;31(2):E1163-74. doi: 10.1002/humu.21184.

PMID:
20020536
2.

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T.

Mol Membr Biol. 2007 Jan-Feb;24(1):74-87.

PMID:
17453415
3.

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.

Heine C, Koch B, Storch S, Kohlschütter A, Palmer DN, Braulke T.

J Biol Chem. 2004 May 21;279(21):22347-52. Epub 2004 Mar 9.

4.

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis.

Thelen M, Damme M, Schweizer M, Hagel C, Wong AM, Cooper JD, Braulke T, Galliciotti G.

PLoS One. 2012;7(4):e35493. doi: 10.1371/journal.pone.0035493. Epub 2012 Apr 20. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/a4b06d46-8eb9-4d15-a15a-41bf4b5ccb8b. Daμμe, Markus [corrected to Damme, Markus]..

5.

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.

Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF.

Exp Cell Res. 2004 Aug 15;298(2):399-406.

PMID:
15265688
6.

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
7.

Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.

Oresic K, Mueller B, Tortorella D.

Biosci Rep. 2009 Jun;29(3):173-81. doi: 10.1042/BSR20080143.

8.

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE.

Am J Hum Genet. 2002 Feb;70(2):537-42. Epub 2001 Nov 27.

9.

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM.

Hum Mutat. 2003 May;21(5):502-8.

PMID:
12673792
10.

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.

Morgan JP, Magee H, Wong A, Nelson T, Koch B, Cooper JD, Weimer JM.

PLoS One. 2013 Nov 1;8(11):e78694. doi: 10.1371/journal.pone.0078694. eCollection 2013.

11.

Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.

Benedict JW, Getty AL, Wishart TM, Gillingwater TH, Pearce DA.

J Neurosci Res. 2009 Jul;87(9):2157-66. doi: 10.1002/jnr.22032.

12.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.

Hum Mutat. 2003 Jul;22(1):35-42.

PMID:
12815591
13.

Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation.

Takahashi K, Adachi K, Yoshizaki K, Kunimoto S, Kalaria RN, Watanabe A.

Hum Mol Genet. 2010 Jan 1;19(1):79-89. doi: 10.1093/hmg/ddp468. Epub .

14.

Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway.

Li Y, Lu W, Schwartz AL, Bu G.

J Lipid Res. 2004 Jun;45(6):1084-91. Epub 2004 Mar 1.

15.

High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.

Thelen M, Fehr S, Schweizer M, Braulke T, Galliciotti G.

J Neurosci Res. 2012 Mar;90(3):568-74. doi: 10.1002/jnr.22773. Epub 2011 Oct 19.

PMID:
22012656
17.

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME.

Am J Hum Genet. 2002 Feb;70(2):324-35. Epub 2001 Dec 21.

18.

Dislocation of HMG-CoA reductase and Insig-1, two polytopic endoplasmic reticulum proteins, en route to proteasomal degradation.

Leichner GS, Avner R, Harats D, Roitelman J.

Mol Biol Cell. 2009 Jul;20(14):3330-41. doi: 10.1091/mbc.E08-09-0953. Epub 2009 May 20.

19.

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

Haines RL, Codlin S, Mole SE.

Dis Model Mech. 2009 Jan-Feb;2(1-2):84-92. doi: 10.1242/dmm.000851. Epub 2008 Dec 22.

20.

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.

Steinfeld R, Steinke HB, Isbrandt D, Kohlschütter A, Gärtner J.

Hum Mol Genet. 2004 Oct 15;13(20):2483-91. Epub 2004 Aug 18.

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