A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. - Wikidata - awgldk - TriplyDB

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

http://www.wikidata.org/entity/Q39922868

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The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.The Potential Role of the Proteases Cathepsin D and Cathepsin L in the Progression and Metastasis of Epithelial Ovarian Cancer DNA testing in neurologic diseases Large animal models for Batten disease: a review Lysosomal dysfunction promotes cleavage and neurotoxicity of tau in vivo Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts Cathepsin D--many functions of one aspartic protease Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function Chemoproteomic profiling reveals that cathepsin D off-target activity drives ocular toxicity of β-secretase inhibitors Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material.Knock-down of cathepsin D affects the retinal pigment epithelium, impairs swim-bladder ontogenesis and causes premature death in zebrafish.Neuronal loss and brain atrophy in mice lacking cathepsins B and L An aspartyl cathepsin, CTH3, is essential for proprotein processing during secretory granule maturation in Tetrahymena thermophila.A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.Oxidative stress and autophagy in the regulation of lysosome-dependent neuron death.Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons.The genetic spectrum of human neuronal ceroid-lipofuscinoses.α-Synuclein Transgenic Drosophila As a Model of Parkinson's Disease and Related Synucleinopathies.Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses.A Dictyostelium mutant with reduced lysozyme levels compensates by increased phagocytic activity.Cathepsin D deficiency is associated with a human neurodegenerative disorder.The neuronal ceroid-lipofuscinoses.The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Selectivity and types of cell death in the neuronal ceroid lipofuscinoses.Activation of microglia acidifies lysosomes and leads to degradation of Alzheimer amyloid fibrils.Proteolytic mechanisms in necrotic cell death and neurodegeneration.Autophagy and neuronal cell death in neurological disorders 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.A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth.Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease.Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease.Analysis of NCL Proteins from an Evolutionary Standpoint.

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P2860

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

http://www.wikidata.org/entity/Q39922868

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2000 nî lūn-bûn

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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type

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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The EMBO Journal

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A mutation in the ovine cathep ...... th profound neurodegeneration.

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D E Sleat

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I Sohar

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J Tyynelä

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M Baumann

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M Haltia

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P Lobel

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R J Donnelly

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R M Gin

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P2860

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

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

The structure and function of the aspartic proteinases

Cathepsin B, Cathepsin H, and cathepsin L

Lysosomal targeting of palmitoyl-protein thioesterase

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