Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.
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A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human diseaseNovel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteinsInteractions of the proteins of neuronal ceroid lipofuscinosis: clues to functionBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesLarge-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous systemBrain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosisAn atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrolStop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol.Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy.Plasma biomarkers for neuronal ceroid lipofuscinosis.Designing a plan for drug discovery in rare pediatric neurodegenerative disease.Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.Biometals in rare neurodegenerative disorders of childhood.Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosisLocation and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosisCln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice.Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathwayPathophysiology of neuropathic lysosomal storage disorders.Treating inflammation in childhood neurodegenerative disorders.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Clinical translation of human neural stem cells.Synergistic effects of treating the spinal cord and brain in CLN1 disease.Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivoS. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p.Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.Neuronal hyperexcitability and seizures are associated with changes in glial-neuronal interactions in the hippocampus of a mouse model of epilepsy with mental retardation.Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis: a new rostrocaudal perspective.A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.Increased [³H]D-aspartate release and changes in glutamate receptor expression in the hippocampus of the mnd mouse.
P2860
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P2860
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Progress towards understanding ...... euronal ceroid lipofuscinosis.
@ast
Progress towards understanding ...... euronal ceroid lipofuscinosis.
@en
type
label
Progress towards understanding ...... euronal ceroid lipofuscinosis.
@ast
Progress towards understanding ...... euronal ceroid lipofuscinosis.
@en
prefLabel
Progress towards understanding ...... euronal ceroid lipofuscinosis.
@ast
Progress towards understanding ...... euronal ceroid lipofuscinosis.
@en
P1476
Progress towards understanding ...... neuronal ceroid lipofuscinosis
@en
P2093
Hannah M Mitchison
P304
P356
10.1016/J.BBADIS.2006.08.002
P407
P577
2006-08-10T00:00:00Z