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• Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.

  Uusi-Rauva K, Blom T, von Schantz-Fant C, Blom T, Jalanko A, Kyttälä A. Uusi-Rauva K, et al. Int J Mol Sci. 2017 May 1;18(5):955. doi: 10.3390/ijms18050955. Int J Mol Sci. 2017. PMID: 28468312 Free PMC article.
• Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

  Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L. Savukoski M, et al. Am J Hum Genet. 1994 Oct;55(4):695-701. Am J Hum Genet. 1994. PMID: 7942847 Free PMC article.
• A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

  Basak I, Wicky HE, McDonald KO, Xu JB, Palmer JE, Best HL, Lefrancois S, Lee SY, Schoderboeck L, Hughes SM. Basak I, et al. Cell Mol Life Sci. 2021 May;78(10):4735-4763. doi: 10.1007/s00018-021-03813-x. Epub 2021 Apr 1. Cell Mol Life Sci. 2021. PMID: 33792748 Free PMC article. Review.
• Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement.

  Basak I, Hansen RA, Ward ME, Hughes SM. Basak I, et al. Biomolecules. 2021 Sep 27;11(10):1412. doi: 10.3390/biom11101412. Biomolecules. 2021. PMID: 34680045 Free PMC article.
• Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.

  von Schantz C, Kielar C, Hansen SN, Pontikis CC, Alexander NA, Kopra O, Jalanko A, Cooper JD. von Schantz C, et al. Neurobiol Dis. 2009 May;34(2):308-19. doi: 10.1016/j.nbd.2009.02.001. Neurobiol Dis. 2009. PMID: 19385065 Free PMC article.