Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. - Wikidata - awgldk - TriplyDB

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

http://www.wikidata.org/entity/Q37378095

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Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.Expression of the neuroprotective slow Wallerian degeneration (WldS) gene in non-neuronal tissues.The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis Synaptic protection in the brain of WldS mice occurs independently of age but is sensitive to gene-dose.Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.Total protein analysis as a reliable loading control for quantitative fluorescent Western blotting.A guide to modern quantitative fluorescent western blotting with troubleshooting strategies Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.Proteomic Profiling of Cranial (Superior) Cervical Ganglia Reveals Beta-Amyloid and Ubiquitin Proteasome System Perturbations in an Equine Multiple System Neuropathy Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.Molecular neuropathology of the synapse in sheep with CLN5 Batten disease Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease)Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative disease.Synaptic failure: The achilles tendon of sphingolipidoses Synergistic effects of treating the spinal cord and brain in CLN1 disease.Altered glutamate receptor function in the cerebellum of the Ppt1-/- mouse, a murine model of infantile neuronal ceroid lipofuscinosis Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis.The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy.Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis: a new rostrocaudal perspective.Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease.Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis

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Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

http://www.wikidata.org/entity/Q37378095

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 29 July 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

@en

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

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type

label

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

@en

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

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prefLabel

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

@en

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

@nl

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Human Molecular Genetics

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Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

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Alice Palmer

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Andrew M Wong

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Catherine Kielar

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Chun-Hung Chan

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David A Pearce

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Sybille Dihanich

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P2860

Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

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4066-4080

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scholarly article

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10.1093/HMG/DDP355

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21

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18

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Thomas H. Gillingwater

Jonathan D. Cooper

Thomas M Wishart

Shannon L Macauley

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2009-07-29T00:00:00Z

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26703717

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19640925

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2758138

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