Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis - Wikidata - awgldk - TriplyDB

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

http://www.wikidata.org/entity/Q24791822

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Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments FRET-assisted determination of CLN3 membrane topology Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3 Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells Abnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3(-/-) mice Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7 CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts.Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.The Batten disease gene CLN3 is required for the response to oxidative stress.Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum.Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration.Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease Lithium rescues the impaired autophagy process in CbCln3(Δex7/8/Δex7/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition.Neuron-astrocyte interactions in neurodegenerative diseases: Role of neuroinflammation Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).Astrocytes and lysosomal storage diseases.RANK Ligand Modulation of Autophagy in Oral Squamous Cell Carcinoma Tumor Cells A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis Lysosomal Storage Diseases-Regulating Neurodegeneration.Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis Monitoring autophagy in lysosomal storage disorders Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells.Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway Congenic fine-mapping identifies a major causal locus for variation in the native collateral circulation and ischemic injury in brain and lower extremity.

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Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

http://www.wikidata.org/entity/Q24791822

description

2004 nî lūn-bûn

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2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Membrane trafficking and mitoc ...... neuronal ceroid lipofuscinosis

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Allison M Teed

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Dorotea Rigamonti

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Elisa Fossale

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Hanlin Gao

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Janice A Espinola

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Pavlina Wolf

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Susan L Cotman

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Tanya Lubicz-Nawrocka

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Creative Commons Attribution 2.0 Generic

P2860

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells

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

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes

Membrane topology of CLN3, the protein underlying Batten disease

A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease.

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease.

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]

Autophagy as a regulated pathway of cellular degradation

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scholarly article

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10.1186/1471-2202-5-57

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1

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Marcy E. MacDonald

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2004-12-10T00:00:00Z

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1043767752

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15588329

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Ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)

Early endosome antigen 1

juvenile neuronal ceroid lipofuscinosis

Lysosomal-associated membrane protein 1

RAB7, member RAS oncogene family

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539297

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