201 related articles for article (PubMed ID: 18811591)
21. Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation.
Matsumoto A; Nagashima M; Iwama K; Mizuguchi T; Makino S; Ikeda T; Muramatsu K; Matsumoto N; Yamagata T; Osaka H
Brain Dev; 2019 Sep; 41(8):726-730. PubMed ID: 31029456
[TBL] [Abstract][Full Text] [Related]
22. A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Bajaj L; Sharma J; di Ronza A; Zhang P; Eblimit A; Pal R; Roman D; Collette JR; Booth C; Chang KT; Sifers RN; Jung SY; Weimer JM; Chen R; Schekman RW; Sardiello M
J Clin Invest; 2020 Aug; 130(8):4118-4132. PubMed ID: 32597833
[TBL] [Abstract][Full Text] [Related]
23. 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; 24(1):74-87. PubMed ID: 17453415
[TBL] [Abstract][Full Text] [Related]
24. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
Chin JJ; Behnam B; Davids M; Sharma P; Zein WM; Wang C; Chepa-Lotrea X; Gallantine WB; Toro C; Adams DR; Tifft CJ; Gahl WA; Malicdan MCV
Mol Genet Metab; 2019 Feb; 126(2):188-195. PubMed ID: 30528883
[TBL] [Abstract][Full Text] [Related]
25. Prevention of Photoreceptor Cell Loss in a Cln6
Kleine Holthaus SM; Ribeiro J; Abelleira-Hervas L; Pearson RA; Duran Y; Georgiadis A; Sampson RD; Rizzi M; Hoke J; Maswood R; Azam S; Luhmann UFO; Smith AJ; Mole SE; Ali RR
Mol Ther; 2018 May; 26(5):1343-1353. PubMed ID: 29606505
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 23542453
[TBL] [Abstract][Full Text] [Related]
27. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R; Echeverri-McCandless A; Weimer JM; Ulate-Campos A; Soto-Rodríguez A; Gutiérrez-Mata A; Hernández-Con L; Bogantes-Ledezma S; Balmaceda-Meza A; Brudvig J; Sanabria-Castro A
Orphanet J Rare Dis; 2022 Jan; 17(1):13. PubMed ID: 35012600
[TBL] [Abstract][Full Text] [Related]
28. Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components.
McCue HV; Chen X; Barclay JW; Morgan A; Burgoyne RD
Sci Rep; 2015 Sep; 5():14392. PubMed ID: 26395859
[TBL] [Abstract][Full Text] [Related]
29. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
Lonka L; Kyttälä A; Ranta S; Jalanko A; Lehesjoki AE
Hum Mol Genet; 2000 Jul; 9(11):1691-7. PubMed ID: 10861296
[TBL] [Abstract][Full Text] [Related]
30. 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. PubMed ID: 19235893
[TBL] [Abstract][Full Text] [Related]
31. An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease.
Best HL; Clare AJ; McDonald KO; Wicky HE; Hughes SM
J Neurochem; 2021 May; 157(3):764-780. PubMed ID: 33368303
[TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 23402926
[TBL] [Abstract][Full Text] [Related]
33. 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. PubMed ID: 11727201
[TBL] [Abstract][Full Text] [Related]
34. Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands.
Taschner PE; Franken PF; van Berkel L; Breuning MH
Mol Genet Metab; 1999 Apr; 66(4):339-43. PubMed ID: 10191126
[TBL] [Abstract][Full Text] [Related]
35. p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.
Onodera M; Tsujimoto S; Doi S; Yamashita A; Yamazaki T; Makifuchi T; Inazu T
Clin Chim Acta; 2021 Dec; 523():191-195. PubMed ID: 34597687
[TBL] [Abstract][Full Text] [Related]
36. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.
Zhong N
Mol Genet Metab; 2000; 71(1-2):195-206. PubMed ID: 11001811
[TBL] [Abstract][Full Text] [Related]
37. Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Mole SE; Cotman SL
Biochim Biophys Acta; 2015 Oct; 1852(10 Pt B):2237-41. PubMed ID: 26026925
[TBL] [Abstract][Full Text] [Related]
38. Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.
Kanninen KM; Grubman A; Meyerowitz J; Duncan C; Tan JL; Parker SJ; Crouch PJ; Paterson BM; Hickey JL; Donnelly PS; Volitakis I; Tammen I; Palmer DN; White AR
PLoS One; 2013; 8(3):e58644. PubMed ID: 23516525
[TBL] [Abstract][Full Text] [Related]
39. Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
Fujita E; Kouroku Y; Isoai A; Kumagai H; Misutani A; Matsuda C; Hayashi YK; Momoi T
Hum Mol Genet; 2007 Mar; 16(6):618-29. PubMed ID: 17331981
[TBL] [Abstract][Full Text] [Related]
40. Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.
Kulsirichawaroj P; Likasitwattanakul S; Boonsimma P; Prangphan K; Chanvanichtrakool M
Pediatr Neurol; 2022 Nov; 136():50-55. PubMed ID: 36137348
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
