A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration

A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration

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http://www.wikidata.org/entity/Q28591640
The crucial impact of lysosomes in aging and longevityAAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brainDevelopmental study of tripeptidyl peptidase I activity in the mouse central nervous system and peripheral organs.Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates.Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapySpecific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouseA tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.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.Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease.Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification.Chondroitin Sulfate is the Primary Receptor for a Peptide-Modified AAV That Targets Brain Vascular Endothelium In Vivo.Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses.A mouse M-opsin monochromat: retinal cone photoreceptors have increased M-opsin expression when S-opsin is knocked outDipeptidyl-peptidase I does not functionally compensate for the loss of tripeptidyl-peptidase I in the neurodegenerative disease late-infantile neuronal ceroid lipofuscinosis.Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis.α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C DiseaseAstrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.Tripeptidyl-peptidase I in health and disease.Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts.Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosisLysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal diseaseAntigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosisMitochondrial Ca2+ homeostasis in lysosomal storage diseases.Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouseGenetic 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.Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis.Autophagy, mitochondria and cell death in lysosomal storage diseases.Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease.Clinical translation of human neural stem cells.Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem.
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P2860

A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration

Item
http://www.wikidata.org/entity/Q28591640
description
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im Oktober 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/10/13)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/10/13)
@nl
наукова стаття, опублікована в жовтні 2004
@uk
مقالة علمية (نشرت في 13-10-2004)
@ar
name
A mouse model of classical lat ...... progressive neurodegeneration
@ast
A mouse model of classical lat ...... progressive neurodegeneration
@en
A mouse model of classical lat ...... progressive neurodegeneration
@nl
type
label
A mouse model of classical lat ...... progressive neurodegeneration
@ast
A mouse model of classical lat ...... progressive neurodegeneration
@en
A mouse model of classical lat ...... progressive neurodegeneration
@nl
prefLabel
A mouse model of classical lat ...... progressive neurodegeneration
@ast
A mouse model of classical lat ...... progressive neurodegeneration
@en
A mouse model of classical lat ...... progressive neurodegeneration
@nl
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A mouse model of classical lat ...... progressive neurodegeneration
@en
P2093
P304
P31
P3181
P356
10.1523/JNEUROSCI.2729-04.2004
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P478
P50
P577
P698
P921
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