Regular ArticleStructural Organization and Sequence ofCLN2,the Defective Gene in Classical Late Infantile Neuronal Ceroid Lipofuscinosis☆,☆☆
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Cited by (60)
Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis
2020, Experimental Eye ResearchCitation Excerpt :The clinical disease is manifested by progressive retinal degeneration and vision loss as well as widespread neurodegeneration accompanied by progressive brain atrophy, severe decline in cognitive and motor functions, seizures, and premature death (Mole et al., 2011). The CLN2 form of NCL is caused by mutations in the TPP1 gene that result in deficiencies in functional tripeptidyl peptidase-1 (TPP1) (Liu et al., 1998; Mole and Cotman, 2015; Sleat et al., 1997). TPP1 is a soluble lysosomal enzyme involved in the normal degradation of proteins and peptides in cells throughout the body.
Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy
2019, Neurobiology of DiseaseCitation Excerpt :The Cln2 gene (Ceroid lipofuscinosis, neuronal, 2) (MIM #607998) is a 6.65 kb gene comprised of 13 exons and 12 introns mapped to chromosome 11p15.5. ( Liu et al., 1998; Haines et al., 1998) and encodes a 563-amino acid containing TPP1 preproenzyme which following removal of signal peptide, glycosylation and cleavage yields the 367 residue long 46 kD mature active TPP1 enzyme (Golabek et al., 2003; Sondhi et al., 2001). The protein TPP1 progressively eliminates tripeptides from the N-terminus of small polypeptides, one of which is the subunit c of mitochondrial ATP synthase (SCMAS), the major constituent of the storage granules in LINCL (Crystal et al., 2004; Sohar et al., 1999).
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis
2013, Reproductive BioMedicine OnlineCitation Excerpt :NCL-2 is caused by a genetic deficiency of the lysosomal acid protease tri-peptidyl-peptidase 1 (TPP1) resulting in lysosomal dysfunction (Chang et al., 2012; Sleat et al., 1999). TPP1 is located at 11p15 on chromosome 11 and contains 13 exons (Liu et al., 1998). Through DNA testing of affected families, 89 TPP1 variants involving missense, nonsense, splice site affecting and deletion mutations have now been identified (Ju et al., 2006; Kousi et al., 2012) (http://www.ucl.ac.uk/ncl/mutation).
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
2013, GeneCitation Excerpt :NCLs are inherited in an autosomal recessive manner, except for one autosomal dominant adult form (Noskova et al., 2011; Velinov et al., 2012). According to the newly proposed classification scheme recently published by Williams and Mole (2012), nine NCL-causative genes have been identified and can be functionally grouped as “soluble lysosomal enzyme deficiencies” PPT1/CLN1 (Vesa et al., 1995), TPP1/CLN2 (Liu et al., 1998; Sleat et al., 1997), and CTSD/CLN10 (Siintola et al., 2006b; Steinfeld et al., 2006), or “nonenzyme deficiencies” CLN3 (The International Batten Disease Consortium, 1995), DNAJC5/CLN4 (Noskova et al., 2011; Velinov et al., 2012), CLN5 (Savukoski et al., 1998), CLN6 (Arsov et al., 2011; Gao et al., 2002; Wheeler et al., 2002), MFSD8/CLN7 (Siintola et al., 2007), and CLN8 (Ranta et al., 1999). Remaining genes whose classification is still uncertain are CLCN6 (Poet et al., 2006), SGSH (Sleat et al., 2009), CLN9 (Schulz et al., 2004), GRN/CLN11 (Smith et al., 2012), ATP13A2/CLN12 (Bras et al., 2012), CTSF/CLN13 (Tang et al., 2006), and KCTD7/CLN14 (Krabichler et al., 2012; Staropoli et al., 2012; van Bogaert et al., 2007).
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Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession No. AF039704.
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V. B. Chanda
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These authors contributed equally to the work contained within this article.
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