Neuronal ceroid lipofuscinosis
Definition:
References:
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[1]. Alfried Kohlschütter, et al. Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev. 2009 Aug;31(7):499-502. [Content Brief]
[2]. Bruno A Benitez, et al. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. [Content Brief]
[3]. D E Sleat, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 1997 Sep 19;277(5333):1802-5. [Content Brief]
[4]. Eija Siintola, et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. [Content Brief]
[5]. Hanlin Gao, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. [Content Brief]
[6]. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995 Sep 22;82(6):949-57. [Content Brief]
[7]. J Vesa, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995 Aug 17;376(6541):584-7. [Content Brief]
[8]. John F Staropoli, et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13;91(1):202-8. [Content Brief]
[9]. Jose Bras, et al. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 2012 Jun 15;21(12):2646-50. [Content Brief]
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[11]. Katherine R Smith, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. [Content Brief]
[12]. Katherine R Smith, et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet. 2012 Jun 8;90(6):1102-7. [Content Brief]
[13]. M Savukoski, et al. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet. 1998 Jul;19(3):286-8. [Content Brief]
[14]. Robert Steinfeld, et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006 Jun;78(6):988-98. [Content Brief]
[15]. S Ranta, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct;23(2):233-6. [Content Brief]
[16]. Sara E Mole, et al. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005 Sep;6(3):107-26. [Content Brief]
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