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Ceroid-lipofuscinosis, neuronal 8

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)
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Top mentioned proteins: Als, HAD, AGE, nucleolin, CAN
Papers on CLN8
Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia.
Vucic et al., Sydney, Australia. In Eur J Neurol, 12 Mar 2015
BACKGROUND AND PURPOSE: Cortical hyperexcitability has been identified as an important pathogenic mechanism in motor neuron disease (MND).
Intraosseous delivery of lentiviral vectors targeting factor VIII expression in platelets corrects murine hemophilia A.
Miao et al., Seattle, United States. In Mol Ther, 06 Mar 2015
We utilized IO delivery of LVs encoding a GFP or factor VIII (FVIII) transgene directed by ubiquitous promoters (a MND or EF-1α-short element; M-GFP-LV, E-F8-LV) or a platelet-specific, glycoprotein-1bα promoter (G-GFP-LV, G-F8-LV).
Cortical neurons are a prominent source of the proinflammatory cytokine osteopontin in HIV-associated neurocognitive disorders.
Brown et al., Baltimore, United States. In J Neurovirol, 03 Mar 2015
Uninfected normal controls, amyotrophic lateral sclerosis (ALS), HIV+ asymptomatic neurocognitive impairment (ANI), and HIV+ mild neurocognitive disorder (MND)/HIV-associated dementia (HAD) groups were included.
Indirect cytocompatibility of a low-concentration hydrogen peroxide bleaching gel to odontoblast-like cells.
de Souza Costa et al., São Paulo, Brazil. In Int Endod J, Jan 2015
The ALP activity, DSPP and DMP-1 gene expression and mineralised nodule deposition (MND) were assessed at 7, 14 or 21 days post-bleaching and analyzed statistically with Mann-Whitney test (α = 5%).
Cerebrospinal fluid proteomics and protein biomarkers in frontotemporal lobar degeneration: Current status and future perspectives.
Otto et al., Ulm, Germany. In Biochim Biophys Acta, Jan 2015
UNASSIGNED: Frontotemporal lobar degeneration (FTLD) comprises a spectrum of rare neurodegenerative diseases with an estimated prevalence of 15-22 cases per 100,000 persons including the behavioral variant of frontotemporal dementia (bvFTD), progressive non-fluent aphasia (PNFA), semantic dementia (SD), FTD with motor neuron disease (FTD-MND), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS).
Experimental transmissibility of mutant SOD1 motor neuron disease.
Borchelt et al., Gainesville, United States. In Acta Neuropathol, 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.
Advances in motor neurone disease.
Turner et al., Oxford, United Kingdom. In J R Soc Med, 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.
The neuropathology of sport.
Stein et al., Boston, United States. In Acta Neuropathol, 2014
CTE often occurs as a sole diagnosis, but may be associated with other neurodegenerative disorders, including motor neuron disease (CTE-MND).
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Laissue et al., Bogotá, Colombia. In Plos One, 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.
Carrì et al., Leuven, Belgium. In Biochem Soc Trans, 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.
Expression of one important chaperone protein, heat shock protein 27, in neurodegenerative diseases.
Mann et al., Beijing, China. In Alzheimers Res Ther, 2013
METHODS: The role of HSP27 in the pathogenesis of neurodegenerative disorders such as frontotemporal lobar degeneration (FTLD), Alzheimer's disease (AD) and motor neuron disease (MND) was investigated.
Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6.
Pinto Marques et al., Castelo Branco, Portugal. In Case Report Neurol Med, 2013
Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation.
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
Van Broeckhoven et al., Antwerp, Belgium. In Trends Neurosci, 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.
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
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.
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.
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.
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.
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.
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.
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.
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