Linked Life Data

9151310

Source:http://linkedlifedata.com/resource/pubmed/id/9151310

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-8-20
pubmed:abstractText
Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children with a global incidence of 1 in 12,500. NCL are divided into three autosomal recessive subtypes, all assigned to different chromosomal loci. The infantile subtype of NCL (INCL) is characterized by early visual loss and mental deterioration, and leads to a vegetative state of the patients by 3 years of age. We pursued the identification of the gene defective in INCL, enriched in the Finnish population by a positional cloning approach and identified mutations in the palmitoyl-protein thioesterase (PPT) gene in INCL patients. We have further shown that PPT represents a novel lysosomal enzyme and is routed to the lysosomes via the mannose 6-phosphate receptor-mediated pathway. The worldwide most common mutation in the PPT gene, INCLFin, results in the deficient routing of the mutant PPT to lysosomes and undetectable enzyme activity in the brain tissue of patients. Our results suggest that INCL can be classified as a new member of lysosomal enzyme deficiencies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
9-11
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene.
pubmed:affiliation
National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland.
pubmed:publicationType
Journal Article