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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 14 Jul 2015.

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
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
New
Franceschetti et al., Catania, Italy. In Neurology, 26 Jul 2015
OBJECTIVES: To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network.
Review
New
Mitchell et al., New Zealand. In Biochim Biophys Acta, 11 Jul 2015
Themes include CLN5 and CLN6 neuronal cell culture studies, studies on tissues from affected and control animals and whole animal in vivo studies.
Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease).
Review
New
Cotman et al., London, United Kingdom. In Biochim Biophys Acta, 27 Jun 2015
These genes encode lysosomal enzymes (CLN1, CLN2, CLN10, CLN13), a soluble lysosomal protein (CLN5), a protein in the secretory pathway (CLN11), two cytoplasmic proteins that also peripherally associate with membranes (CLN4, CLN14), and many transmembrane proteins with different subcellular locations (CLN3, CLN6, CLN7, CLN8, CLN12).
The Neuronal Ceroid Lipofuscinoses Program: A Translational Research Experience in Argentina.
Review
New
de Halac et al., Córdoba, Argentina. In Biochim Biophys Acta, 11 Jun 2015
Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/known mutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; 4) NCL-like pathology studies in progress.
Cell biology of the NCL proteins: What they do and don't do.
Review
New
Pearce et al., Sioux Falls, United States. In Biochim Biophys Acta, 08 Jun 2015
NCL-associated proteins have been localized mostly in lysosomes (CLN1, CLN2, CLN3, CLN5, CLN7, CLN10, CLN12 and CLN13) but also in the Endoplasmic Reticulum (CLN6 and CLN8), or in the cytosol associated to vesicular membranes (CLN4 and CLN14).
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
New
Impact
Lehesjoki et al., Helsinki, Finland. In Nat Genet, Jan 2015
Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1).
Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.
New
Morton et al., Cambridge, United Kingdom. In Plos One, Dec 2014
Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6.
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 2014
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.
X-ray fluorescence imaging reveals subcellular biometal disturbances in a childhood neurodegenerative disorder.
New
White et al., Melbourne, Australia. In Chem Sci, Jun 2014
We applied this approach to investigate subcellular biometal homeostasis in a cerebellar cell line isolated from a natural mouse model of a childhood neurodegenerative disorder, the CLN6 form of neuronal ceroid lipofuscinosis, commonly known as Batten disease.
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses?
New
Kanninen et al., In Metallomics, 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.
Kanninen et al., Melbourne, Australia. In Acta Neuropathol Commun, 2013
We previously showed biometal accumulation in ovine and murine models of the CLN6 variant NCL, but the mechanism is unknown.
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Laissue et al., Bogot√°, Colombia. In Plos One, 2013
The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations.
Human pathology in NCL.
Review
Simonati et al., London, United Kingdom. In Biochim Biophys Acta, 2013
CLN1, CLN5, and CLN6, whilst autosomal-dominant adult NCL, now designated as CLN4, is caused by a newly identified separate gene, DNAJC5.
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.
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).
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.
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.
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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