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Journal Abstract Search

291 related items for PubMed ID: 11588979

  • 21. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.
    Kida E, Golabek AA, Wisniewski KE.
    Adv Genet; 2001; 45():35-68. PubMed ID: 11332776
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  • 22. Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
    Wisniewski KE, Kida E, Walus M, Wujek P, Kaczmarski W, Golabek AA.
    Eur J Paediatr Neurol; 2001; 5 Suppl A():73-9. PubMed ID: 11589013
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  • 23. Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain.
    Fabritius AL, Vesa J, Minye HM, Nakano I, Kornblum H, Peltonen L.
    Exp Mol Pathol; 2014 Dec; 97(3):484-91. PubMed ID: 25303899
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  • 27. Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2.
    Katz ML, Liu PC, Grob-Nunn SE, Shibuya H, Johnson GS.
    Mamm Genome; 1999 Nov; 10(11):1050-3. PubMed ID: 10556422
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  • 29. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.
    Mol Cell Neurosci; 2002 Apr; 19(4):515-27. PubMed ID: 11988019
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  • 30. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
    Lin L, Lobel P.
    Hum Mutat; 2001 Aug; 18(2):165. PubMed ID: 11462245
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  • 31. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
    Hartikainen JM, Ju W, Wisniewski KE, Moroziewicz DN, Kaczmarski AL, McLendon L, Zhong D, Suarez CT, Brown WT, Zhong N.
    Mol Genet Metab; 1999 Jun; 67(2):162-8. PubMed ID: 10356316
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  • 32. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
    Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS.
    Mol Genet Metab; 2006 Nov; 89(3):254-60. PubMed ID: 16621647
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  • 33. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease).
    Katz ML, Shibuya H, Liu PC, Kaur S, Gao CL, Johnson GS.
    J Neurosci Res; 1999 Aug 15; 57(4):551-6. PubMed ID: 10440905
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  • 34. 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. PubMed ID: 15317752
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  • 36. Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
    Lam CW, Poon PM, Tong SF, Ko CH.
    Am J Med Genet; 2001 Mar 01; 99(2):161-3. PubMed ID: 11241479
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  • 37. Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
    Kyttälä A, Lahtinen U, Braulke T, Hofmann SL.
    Biochim Biophys Acta; 2006 Oct 01; 1762(10):920-33. PubMed ID: 16839750
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  • 38. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
    Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY.
    Curr Mol Med; 2002 Aug 01; 2(5):423-37. PubMed ID: 12125808
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  • 39. Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
    Sleat DE, Tannous A, Sohar I, Wiseman JA, Zheng H, Qian M, Zhao C, Xin W, Barone R, Sims KB, Moore DF, Lobel P.
    J Proteome Res; 2017 Oct 06; 16(10):3787-3804. PubMed ID: 28792770
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  • 40. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
    Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P.
    Am J Hum Genet; 1999 Jun 06; 64(6):1511-23. PubMed ID: 10330339
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