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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
Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients.
Otto et al., Ulm, Germany. In J Neurol Neurosurg Psychiatry, 31 Jan 2016
OBJECTIVES: Biomarkers for the diagnosis of motoneuron diseases (MND) are urgently needed to improve the diagnostic pathway, patient stratification and monitoring.
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Neumann et al., Vancouver, Canada. In Acta Neuropathol, 31 Dec 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.
The role of dipeptide repeat protein pathology in C9orf72 mutation cases.
Mackenzie, Vancouver, Canada. In Neuropathol Appl Neurobiol, 18 Dec 2015
UNASSIGNED: Mutation of the C9orf72 gene was recently identified as the most common genetic cause of motor neuron disease (MND) and an important cause of frontotemporal dementia (FTD).
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
Marrosu et al., Cagliari, Italy. In J Neurol, Nov 2015
Our findings seem to support the hypothesis that the hexanucleotide expansions of C9ORF72 gene with intermediate repetitions between 20 and 29 repetitions could be associated with typical PD with psychosis or dementia and atypical parkinsonisms with dementia (non-classical atypical parkinsonism with dementia FTD-like) or without dementia (non-classical atypical parkinsonism upper MND-like), although the causal relationship is still unclear.
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, Nov 2015
CLN8 was first identified in Finnish patients, and the phenotype was subsequently found in Turkish, Italian, and Pakistani patients.
Motor neuron disease: current management and future prospects.
Kiernan et al., Sydney, Australia. In Intern Med J, 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, 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, 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.
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
Baas et al., Netherlands. In Amyotroph Lateral Scler Frontotemporal Degener, Sep 2015
Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND.
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
Someya et al., Niigata, Japan. In Plos One, 2014
We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD.
Design and implementation of a hybrid MPI-CUDA model for the Smith-Waterman algorithm.
El Gohary et al., In Int J Data Min Bioinform, 2014
The model consists of the Master Node Dispatcher (MND) and the Worker GPU Nodes (WGN).
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, 2014
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.
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
Borroni et al., Brescia, Italy. In Front Aging Neurosci, 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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