1998
DOI: 10.1038/975
|View full text |Cite
|
Sign up to set email alerts
|

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

Abstract: The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of childhood, with an incidence of 1:12,500 live births. They are characterized by accumulation of autofluorescent lipopigments in various tissues. Several forms of NCLs have been identified, based on age at onset, progression of disease, neurophysiological and histopathological findings and separate genetic loci. All types of NCL cause progressive visual and mental decline, motor disturbance, … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

8
199
1
2

Year Published

1999
1999
2018
2018

Publication Types

Select...
8
1

Relationship

2
7

Authors

Journals

citations
Cited by 255 publications
(210 citation statements)
references
References 17 publications
8
199
1
2
Order By: Relevance
“…While the wild-type CLN5 colocalize with lysosomes [16], the p.Ser312Asn mutant protein was retained in the ER and did not reach the lysosome, in analogy with p.Tyr392*, a previously well characterized CLN5 protein change causing an infantile-onset NCL in Finnish population. Therefore, our data further sustain the hypothesis that CLN5 mutations, including the one identified, impact the ER-lysosomal trafficking [15,16].…”
Section: Discussionsupporting
confidence: 86%
See 1 more Smart Citation
“…While the wild-type CLN5 colocalize with lysosomes [16], the p.Ser312Asn mutant protein was retained in the ER and did not reach the lysosome, in analogy with p.Tyr392*, a previously well characterized CLN5 protein change causing an infantile-onset NCL in Finnish population. Therefore, our data further sustain the hypothesis that CLN5 mutations, including the one identified, impact the ER-lysosomal trafficking [15,16].…”
Section: Discussionsupporting
confidence: 86%
“…We called variants using Genome Analysis Tool Kit (GATK, version 1.4) [12] followed by functional annotation with Annovar [13] and SnpEff [14]. In the second pipeline (P2), we conducted alignment to UCSC hg19 by Short Oligonucleotide Analysis Package (SOAP, version2.21) [15], then used SOAPsnp (version 1.05) [16] to identify single nucleotide variants (SNVs) as well as GATK [12] to detect small insertion-deletions (indels).…”
Section: Exome Sequencing Data Analysismentioning
confidence: 99%
“…34 Expanded and relatively isolated populations, like the Finns, have proved suitable for successful mapping of rare monogenic diseases. 20,[35][36][37] According to the results presented here, only a very small level of LD is likely to exist between alleles of microsatellite loci on randomly ascertained chromosomes, rendering the interference from the background LD negligible, whereas there may be long conserved haplotypes flanking rare disease alleles, as the alleles are clonally identical from some single common ancestral chromosome due to linkage in the population-as-pedigree. 4,34 When a sample is ascertained randomly, and not on the basis of the sharing of a rare (eg disease-predisposing) allele, associations with the surrounding markers are not expected, but when the ascertainment is conditional on the presence of a rare allele, and all the copies of that allele are clonal, there may be considerable LD.…”
Section: Discussionmentioning
confidence: 99%
“…The genes associated with NCL encode a diverse group of both soluble and membrane bound proteins that reside in multiple cellular compartments. Single deficiencies in any of four soluble proteins, palmitoyl-protein thioesterase-1 [1], tripeptidyl peptidase-1 [2], cathepsin D [3] or cathepsin F [4], or of six membrane bound proteins, CLN3 [5], CLN5 [6], CLN6 [7], CLN8 [8], CLC-3 [9;10] or CLC-7 [11], have been associated with the development of NCL in either human or animal models. CLN3 protein is highly hydrophobic and its expression has been detected in multiple human tissues including brain, pancreatic islets, peripheral nerve, spleen and testis [12].…”
Section: Introductionmentioning
confidence: 99%