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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
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Kure et al., Sendai, Japan. In Brain Dev, 03 Nov 2015
CLN8 was first identified in Finnish patients, and the phenotype was subsequently found in Turkish, Italian, and Pakistani patients.
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Cotman et al., London, United Kingdom. In Biochim Biophys Acta, 31 Oct 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.
de Halac et al., Córdoba, Argentina. In Biochim Biophys Acta, 31 Oct 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; and 4) NCL-like pathology studies in progress.
Cell biology of the NCL proteins: What they do and don't do.
Pearce et al., Sioux Falls, United States. In Biochim Biophys Acta, 31 Oct 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).
Motor neuron disease: current management and future prospects.
Kiernan et al., Sydney, Australia. In Intern Med J, 31 Oct 2015
Motor neuron disease (MND) is characterised by progressive neurological deterioration and coexistence of upper and lower motor neuron signs.
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.
Boylan et al., Jacksonville, United States. In Acta Neuropathol, 31 Oct 2015
For these studies, we took a departure from traditional immunohistochemical approaches and instead employed immunoassays to quantitatively measure poly(GP) and poly(GA) levels in cerebellum, frontal cortex, motor cortex, and/or hippocampus from 55 C9ORF72 mutation carriers [12 patients with ALS, 24 with frontotemporal lobar degeneration (FTLD) and 19 with FTLD with motor neuron disease (FTLD-MND)].
Efficient modification of CCR5 in primary human hematopoietic cells using a megaTAL nuclease and AAV donor template.
Rawlings et al., Seattle, United States. In Sci Transl Med, 30 Oct 2015
This method consistently achieved 8 to 60% rates of homology-directed recombination into the CCR5 locus in T cells, with over 80% of cells modified with an MND-GFP expression cassette exhibiting biallelic modification.
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Neumann et al., Vancouver, Canada. In Acta Neuropathol, 15 Oct 2015
Therefore, we performed a systematic clinico-pathological correlative analysis with counting of actual numbers of distinct types of inclusion (neuronal cytoplasmic and intranuclear inclusions, dystrophic neurites) for each DPR protein in relevant brain regions (premotor cortex, lower motor neurons) in a cohort of 35 C9ORF72 mutation cases covering the clinical spectrum from those with pure MND, mixed FTD/MND and pure FTD.
Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients.
Otto et al., Ulm, Germany. In J Neurol Neurosurg Psychiatry, Sep 2015
OBJECTIVES: Biomarkers for the diagnosis of motoneuron diseases (MND) are urgently needed to improve the diagnostic pathway, patient stratification and monitoring.
GSTP1 polymorphisms and their association with glutathione transferase and peroxidase activities in patients with motor neuron disease.
Barańczyk-Kuźma et al., Warsaw, Poland. In Cns Neurol Disord Drug Targets, Sep 2015
Together with Se-dependent glutathione peroxidase (Se-GSHPx) it protects cells against oxidative stress which may be a primary factor implicated in motor neuron disease (MND) pathogenesis.
Design and implementation of a hybrid MPI-CUDA model for the Smith-Waterman algorithm.
El Gohary et al., In Int J Data Min Bioinform, Dec 2014
The model consists of the Master Node Dispatcher (MND) and the Worker GPU Nodes (WGN).
Patients experiences of maintaining mental well-being and hope within motor neuron disease: a thematic synthesis.
Condon et al., Birmingham, United Kingdom. In Front Psychol, Dec 2014
Research is required that can synthesize the experiences of patients with Motor Neuron Disease (MND).
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
Borroni et al., Brescia, Italy. In Front Aging Neurosci, Dec 2014
Some patients have an associated movement disorder, either parkinsonism, as in progressive supranuclear palsy and corticobasal syndrome, or motor neuron disease (FTD-MND).
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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