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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, nucleolin, AGE, CAN
Papers on CLN8
Davey et al., Philadelphia, United States. In Hum Gene Ther Methods, 24 Apr 2014
All vectors expressed green fluorescent protein (GFP) under the transcriptional control of various promoters including chicken β-actin (CB) or cytomegalovirus (CMV) for AAV and CMV or MND for LV.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
Rademakers et al., Jacksonville, United States. In Acta Neuropathol, 31 Mar 2014
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
Association of a paraneoplastic motor neuron disease with anti-Ri antibodies and a novel SOD1 I18del mutation.
Praline et al., Tours, France. In J Neurol Sci, 15 Mar 2014
The diagnosis of paraneoplastic MND was established.
Advances in motor neurone disease.
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.
The neuropathology of sport.
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).
Dietary mineral supplies in Africa.
Broadley et al., Loughborough, United Kingdom. In Physiol Plant, Jan 2014
Here, we estimate MND risks due to inadequate intakes for seven minerals in Africa using food supply and composition data, and consider the potential of food-based and agricultural interventions.
The intriguing case of motor neuron disease: ALS and SMA come closer.
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.
The extracellular domain of neurotrophin receptor p75 as a candidate biomarker for amyotrophic lateral sclerosis.
Rogers et al., Adelaide, Australia. In Plos One, Dec 2013
Pilot data of disease progression rates in 14 MND patients indicates that p75NTR(ECD) levels were significantly higher (p = 0.0041) in 7 rapidly progressing patients as compared to 7 with slowly progressing disease.
Neuropathy target esterase (NTE): overview and future.
Makhaeva et al., Ann Arbor, United States. In Chem Biol Interact, Apr 2013
Mutations in the catalytic domain of NTE (PNPLA6) are associated with a slowly developing disease akin to OP neuropathy and hereditary spastic paraplegia called NTE-related motor neuron disorder (NTE-MND).
Simulated surgical-type cerebral biopsies from post-mortem brains allows accurate neuropathological diagnoses in the majority of neurodegenerative disease groups.
Al-Sarraj et al., London, United Kingdom. In Acta Neuropathol Commun, 2012
RESULTS: The agreement and sensitivity in most cases was good especially: controls; Alzheimer's disease (AD); multiple system atrophy (MSA); frontotemporal lobar degeneration with TDP-43 positive inclusions and/or motor neurone disease (FTLD-TDP/MND); Huntington's disease (HD); corticobasal degeneration (CBD) / microtubular associated protein tau mutation cases with CBD-like features (CBD/MAPT); and combined AD- Dementia with Lewy Bodies (AD-DLB) where the sensitivity on assessing both brain regions varied between 75-100%.
Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
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.
Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects.
Mann et al., Sydney, Australia. In Acta Neuropathol, 2012
In motor neurone disease (MND), TDP-43 or FUS inclusions can present within motor neurons of the brain stem and spinal cord.
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.
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics.
Shacka, Birmingham, United States. In Brain Res Bull, 2012
Specific gene mutations are now known for each subclass of NCL in humans that now largely define the disease: cathepsin D (CTSD) for congenital (CLN10 form); palmitoyl protein thioesterase 1 (PPT1) for infantile (CLN1 form); tripeptidyl peptidase 1 (TPP1) for classic late infantile (CLN2 form); variant late infantile-CLN5, CLN6 or CLN8 for variant late infantile forms; and CLN3 for juvenile (CLN3 form).
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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