Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.[5][6][7]
The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky–Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM][7]
A human clinical trial of gene therapy for the CLN5 form of Batten disease began in 2022 through the University of Rochester, using vectors developed by the Hughes research lab in New Zealand.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000102805 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000022125 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (Oct 1994). "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am J Hum Genet. 55 (4): 695–701. PMC 1918303. PMID 7942847.
^Klockars T, Savukoski M, Isosomppi J, Laan M, Jarvela I, Petrukhin K, Palotie A, Peltonen L (Sep 1996). "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics. 35 (1): 71–8. doi:10.1006/geno.1996.0324. PMID 8661106.
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene. The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal...
ITU country code Genes related to neuronal ceroid lipofuscinosis: CLN3, CLN5, CLN6, CLN8 This disambiguation page lists articles associated with the title...
associated protein. Finnish variant of late infantile NCL (fLINCL): CLN5 encodes for CLN5, a soluble lysosomal protein. Variant of the late infantile NCL:...
neuronal ceroid lipofuscinosis are found in the Finnish heritage: CLN1, CLN3, CLN5, and CLN8. Names for conditions associated with these subtypes include infantile...
"Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3". Mol Biol Cell. 13 (7): 2410–20. doi:10.1091/mbc...
Kufs disease / adult NCL (CLN4) Type 5 Finnish Variant / late infantile (CLN5) Type 6 Late infantile variant (CLN6) Type 7 CLN7 Type 8 Northern epilepsy...
her research group developed a gene therapy for one form of the disease, CLN5, which has progressed to clinical trials in humans. Hughes's laboratory also...
of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5". Human Mutation. 14 (3): 199–215. doi:10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3...
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