gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 23 Nov 2014.

Ceroid-lipofuscinosis, neuronal 8

CLN8, MND
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008] (from NCBI)
Sponsored links
Top mentioned proteins: Als, HAD, AGE, nucleolin, CAN
Papers on CLN8
Experimental transmissibility of mutant SOD1 motor neuron disease.
New
Borchelt et al., Gainesville, United States. In Acta Neuropathol, 31 Dec 2014
To survey the ease with which motor neuron disease (MND) can be transmitted, we injected spinal cord homogenates prepared from paralyzed mice expressing mutant superoxide dismutase 1 (SOD1-G93A and G37R) into the spinal cords of genetically vulnerable SOD1 transgenic mice.
Vitamin D deficiency in patients with primary immune-mediated peripheral neuropathies.
New
Punga et al., Uppsala, Sweden. In J Neurol Sci, 15 Nov 2014
METHODS: Plasma levels of 25(OH)D were analyzed in 26 patients with primary immune-mediated PNP, 50 healthy matched blood donors and 24 patients with motor neuron disease (MND).
Thioaryl naphthylmethanone oxime ether analogs as novel anticancer agents.
New
Kumar et al., Lucknow, India. In J Med Chem, 09 Nov 2014
Employing a rational design of thioaryl naphthylmethanone oxime ether analogs containing functional properties of various anticancer drugs, a series of compounds were identified that displayed potent cytotoxicity toward various cancer cells, out of which 4-(methylthio)phenyl)(naphthalen-1-yl)methanone O-2-(diethylamino)ethyl oxime (MND) exhibited the best safety profile.
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
New
Katz et al., Columbia, United States. In Mol Genet Metab, Aug 2014
One of these genes, CLN8, encodes an intrinsic membrane protein of unknown function that appears to be localized primarily to the endoplasmic reticulum.
Molecular and functional analyses of motor neurons generated from human cord blood derived induced pluripotent stem cells.
New
Petri et al., Belmont, United States. In Stem Cells Dev, Aug 2014
UNLABELLED: Induced pluripotent stem cells (iPSC) have become the most promising candidates for in-vitro modeling of motor neuron diseases (MND) such as Amyotrophic Lateral Sclerosis (ALS) and possibly for future therapeutic implementation in regenerative medicine.
The neuropathology of sport.
Review
New
Stein et al., Boston, United States. In Acta Neuropathol, Jan 2014
CTE often occurs as a sole diagnosis, but may be associated with other neurodegenerative disorders, including motor neuron disease (CTE-MND).
Advances in motor neurone disease.
Review
New
Turner et al., Oxford, United Kingdom. In J R Soc Med, Jan 2014
Motor neurone disease (MND), the commonest clinical presentation of which is amyotrophic lateral sclerosis (ALS), is regarded as the most devastating of adult-onset neurodegenerative disorders.
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
New
Laissue et al., Bogotá, Colombia. In Plos One, Dec 2013
The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations.
The intriguing case of motor neuron disease: ALS and SMA come closer.
Review
New
Carrì et al., Leuven, Belgium. In Biochem Soc Trans, Dec 2013
More and more genetic factors associated with MND encode proteins that have a function in RNA metabolism, suggesting that disturbed RNA metabolism could be a common underlying problem in several, perhaps all, forms of MND.
Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
New
Rademakers et al., Jacksonville, United States. In Mol Neurodegener, Dec 2013
BACKGROUND: Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are causative for frontotemporal dementia (FTD) and motor neuron disease (MND).
Sensory Rewiring in an Echolocator: Genome-Wide Modification of Retinogenic and Auditory Genes in the Bat Myotis davidii.
New
Reverter et al., Geelong, Australia. In G3 (bethesda), Dec 2013
This CUB ranking systematically enriched for vision-related (CLN8, RD3, IKZF1, LAMC3, CRX, SOX8, VAX2, HPS1, RHO, PRPH2, and SOX9) and hearing-related (TPRN, TMIE, SLC52A3, OTOF, WFS1, SOD1, TBX18, MAP1A, OTOS, GPX1, and USH1G) machinery in M. davidii but not P. alecto.
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
Review
New
Van Broeckhoven et al., Antwerp, Belgium. In Trends Neurosci, Aug 2013
An expanded G4C2 hexanucleotide repeat in the proximal regulatory region of C9orf72 is a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) spectrum.
Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
Review
Wirth et al., Köln, Germany. In Curr Pharm Des, 2012
Consequently, counteracting this dysregulation may be a valuable therapeutic option and ameliorate disease progression in MND patients.
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
GeneRIF
Kopra et al., Helsinki, Finland. In Neuropathol Appl Neurobiol, 2012
The amount of myelin was reduced in 1-month-old Cln8(mnd) mice, but reached normal levels by 5 months of age. The level of Cln8 gene expression followed the developmental pattern of myelin formation and was high in primary oligodendrocytes.
Increased [³H]D-aspartate release and changes in glutamate receptor expression in the hippocampus of the mnd mouse.
GeneRIF
Bonanno et al., Milano, Italy. In J Neurosci Res, 2012
This study demonistrated that the changes in glutamate receptor expression in the hippocampus of the mnd mouse.
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
GeneRIF
Mistry et al., New Haven, United States. In Am J Hematol, 2012
CLN8 is a candidate modifier gene for GD1. Increased expression may protect against severe GD1.It may function as a protective sphingolipid sensor and/or in glycosphingolipid trafficking.
Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis.
GeneRIF
Khiroug et al., Helsinki, Finland. In Cell Calcium, 2011
Mutations in mouse CLN8 gene show marked deficiency of mitochondrial Ca2+ clearance in Cln8mnd neurons, and the heightened vulnerability of these neurons to excitotoxic effects of glutamate.
RNA dysregulation in diseases of motor neurons.
Review
Impact
Mourelatos et al., Philadelphia, United States. In Annu Rev Pathol, 2011
In children, inherited spinal muscular atrophies are the predominant diseases that affect motor neurons, whereas in adults, amyotrophic lateral sclerosis, which is inherited but mostly sporadic, is the most common MND.
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
GeneRIF
Steinfeld et al., Göttingen, Germany. In Clin Genet, 2010
a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype of neuronal ceroid lipofuscinose was described.
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Impact
Lehesjoki et al., Helsinki, Finland. In Nat Genet, 1999
It displays 82% nucleotide identity with CLN8, conservation of the codon harbouring the human mutation and is localized to the same region as the motor neuron degeneration mouse, mnd, a naturally occurring mouse NCL (ref.
share on facebooktweetadd +1mail to friends