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Ceroid-lipofuscinosis, neuronal 6, late infantile, variant

CLN6
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] (from NCBI)
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Top mentioned proteins: nucleolin, CLN2, CLN3, CLN8, AGE
Papers on CLN6
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses?
New
Kanninen et al., Melbourne, Australia. In Metallomics, 13 Apr 2014
We previously demonstrated biometal accumulation and altered biometal transporter expression in 3 animal models of CLN6 NCL disease.
Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.
New
Kanninen et al., Melbourne, Australia. In Acta Neuropathol Commun, Dec 2013
We previously showed biometal accumulation in ovine and murine models of the CLN6 variant NCL, but the mechanism is unknown.
Human pathology in NCL.
Review
New
Simonati et al., London, United Kingdom. In Biochim Biophys Acta, Nov 2013
CLN1, CLN5, and CLN6, whilst autosomal-dominant adult NCL, now designated as CLN4, is caused by a newly identified separate gene, DNAJC5.
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
New
Mukerji et al., Delhi, India. In Clin Genet, Oct 2013
We identified a novel missense mutation in c10orf2 in the family with IOAH, compound heterozygous mutations in CLN6 in the family with JCS and a homozygous frame-shift mutation in SACS in the FA-like patient.
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses.
New
Pearce et al., Rochester, United States. In J Child Neurol, Sep 2013
We examined flurothyl gas-induced seizure latencies and phenotype in 2 mouse models of neuronal ceroid lipofuscinoses: the nclf (Cln6 mutant) variant late-infantile model and the mnd (Cln8 mutant) Northern epilepsy model.
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis.
New
White et al., Melbourne, Australia. In Biol Open, Jul 2013
We characterized the behavioural phenotype of spontaneous mutant mice modeling CLN6 disease, and demonstrate progressive motor and visual decline and reduced lifespan in these mice, consistent with symptoms observed in neuronal ceroid lipofuscinosis patients.
A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.
Weimer et al., Sioux Falls, United States. In Plos One, 2012
Mutations in CLN6 result in both a variant late infantile onset neuronal ceroid lipofuscinosis (vLINCL) as well as an adult-onset form of the disease called Type A Kufs. CLN6 is a non-glycosylated membrane protein of unknown function localized to the endoplasmic reticulum (ER).
Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation.
Langmann et al., Regensburg, Germany. In Plos One, 2012
To study this phenomenon in detail, we analyzed the ocular phenotype of CLN6 (nclf) mice, an established mouse model for variant-late infantile NCL.
Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis.
Braulke et al., Hamburg, Germany. In Invest Ophthalmol Vis Sci, 2012
PURPOSE: Mutations in the CLN6 gene cause variant late-infantile neuronal ceroid lipofuscinosis, a lysosomal storage disorder clinically characterized by progressive loss of vision, dementia, seizures, and early death.
Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression.
Palmer et al., Lincoln, United States. In J Neuroinflammation, 2012
The most studied animals are the CLN6 South Hampshire sheep, in which the course of neuropathology closely follows that in affected children.
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics.
Review
Shacka, Birmingham, United States. In Brain Res Bull, 2012
Specific gene mutations are now known for each subclass of NCL in humans that now largely define the disease: cathepsin D (CTSD) for congenital (CLN10 form); palmitoyl protein thioesterase 1 (PPT1) for infantile (CLN1 form); tripeptidyl peptidase 1 (TPP1) for classic late infantile (CLN2 form); variant late infantile-CLN5, CLN6 or CLN8 for variant late infantile forms; and CLN3 for juvenile (CLN3 form).
High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.
GeneRIF
Galliciotti et al., Hamburg, Germany. In J Neurosci Res, 2012
These findings implicate Cln6 in the survival and maturation of specific neuronal populations during development and make it possible to compare regional Cln6 expression with the distribution of subsequent pathology.
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Review
Mole et al., Helsinki, Finland. In Hum Mutat, 2012
Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9.
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Review
de Halac et al., Córdoba, Argentina. In Curr Pharm Biotechnol, 2011
Eight causal genes, CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8, CLN8, with more than 265 mutations and 38 polymorphisms (http://www.ucl.ac.uk/ncl) have been described.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
GeneRIF
Berkovic et al., Melbourne, Australia. In Am J Hum Genet, 2011
Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
Review
Pearce et al., Sioux Falls, United States. In Cell Mol Life Sci, 2011
Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined.
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
GeneRIF
Cotman et al., Boston, United States. In Plos One, 2010
CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
GeneRIF
Braulke et al., Hamburg, Germany. In Hum Mutat, 2010
Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported.
Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.
GeneRIF
Gillingwater et al., London, United Kingdom. In Hum Mol Genet, 2009
Data show a progressive breakdown of axons and synapses in the brains of two different models of NCL: Ppt1(-/-) model of infantile NCL and Cln6(nclf) model of variant late-infantile NCL.
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