gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 01 Sep 2015.

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
Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients.
New
Otto et al., Ulm, Germany. In J Neurol Neurosurg Psychiatry, 21 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.
New
Barańczyk-Kuźma et al., Warsaw, Poland. In Cns Neurol Disord Drug Targets, 20 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.
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
New
Marrosu et al., Cagliari, Italy. In J Neurol, 15 Sep 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.
Virologically suppressed patients with asymptomatic and symptomatic HIV-associated neurocognitive disorders do not display the same pattern of immune activation.
New
Pradier et al., Nice, France. In Hiv Med, 31 Aug 2015
Patients were divided into an unimpaired group, a group with asymptomatic neurocognitive disorder (ANI) and a group with symptomatic HIV-associated neurocognitive disorder (sHAND), represented by mild neurocognitive disorder (MND).
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
New
Baas et al., Netherlands. In Amyotroph Lateral Scler Frontotemporal Degener, 23 Aug 2015
UNASSIGNED: Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND.
Cerebrospinal fluid proteomics and protein biomarkers in frontotemporal lobar degeneration: Current status and future perspectives.
Review
New
Otto et al., Ulm, Germany. In Biochim Biophys Acta, Jul 2015
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).
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
New
Edbauer et al., München, Germany. In Acta Neuropathol, Jul 2015
In the granular cell layer of the cerebellum, poly-GA and Unc119 inclusions were significantly more abundant in cases with FTLD than in cases with MND and FTLD/MND.
Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease).
Review
New
Cotman et al., London, United Kingdom. In Biochim Biophys Acta, 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).
Combined effect of microRNA, nutraceuticals and drug on pancreatic cancer cell lines.
New
Bamezai et al., India. In Chem Biol Interact, Jun 2015
AIM: We proposed to investigate the combination effect of microRNA, nutraceuticals and drug (MND), in two pancreatic cancer cell lines to assess the therapeutic potential.
The Neuronal Ceroid Lipofuscinoses Program: A Translational Research Experience in Argentina.
Review
New
de Halac et al., Córdoba, Argentina. In Biochim Biophys Acta, 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, 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).
[The pathological TDP-43 protein expression in the central nervous system of motor neuron disease].
New
Gui et al., Beijing, China. In Zhonghua Nei Ke Za Zhi, Jan 2015
OBJECTIVE: To understand pathological TDP-43 features in the central nervous systems of patients with clinically and autopsy confirmed motor neuron disease (MND).
Patients experiences of maintaining mental well-being and hope within motor neuron disease: a thematic synthesis.
Review
New
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).
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