CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
about
Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterA murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human diseaseA deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulationDistinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cellsNovel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteinsInteractions of the proteins of neuronal ceroid lipofuscinosis: clues to functionMutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisExpression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosisDisruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosisCathepsin deficiency as a model for neuronal ceroid lipofuscinoses.Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.Lentiviral-mediated gene transfer to the sheep brain: implications for gene therapy in Batten disease.Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid LipofuscinosisA 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.Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosisLocation and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosisMolecular correlates of axonal and synaptic pathology in mouse models of Batten disease.Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).Analysis of NCL Proteins from an Evolutionary Standpoint.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.NCLs and ER: A stressful relationship.Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis.High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar CellsDiagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens
P2860
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P2860
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
description
2004 nî lūn-bûn
@nan
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
CLN6, which is associated with ...... endoplasmic reticulum protein
@ast
CLN6, which is associated with ...... endoplasmic reticulum protein
@en
CLN6, which is associated with ...... endoplasmic reticulum protein
@en-gb
CLN6, which is associated with ...... endoplasmic reticulum protein
@nl
type
label
CLN6, which is associated with ...... endoplasmic reticulum protein
@ast
CLN6, which is associated with ...... endoplasmic reticulum protein
@en
CLN6, which is associated with ...... endoplasmic reticulum protein
@en-gb
CLN6, which is associated with ...... endoplasmic reticulum protein
@nl
prefLabel
CLN6, which is associated with ...... endoplasmic reticulum protein
@ast
CLN6, which is associated with ...... endoplasmic reticulum protein
@en
CLN6, which is associated with ...... endoplasmic reticulum protein
@en-gb
CLN6, which is associated with ...... endoplasmic reticulum protein
@nl
P2093
P50
P1476
CLN6, which is associated with ...... endoplasmic reticulum protein
@en
P2093
Julie D Sharp
Ruth B Wheeler
Sandra Codlin
P304
P356
10.1016/J.YEXCR.2004.04.042
P407
P577
2004-08-15T00:00:00Z