The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
about
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeastMass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case studyDefective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase AThe novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterThe neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulationUsing the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosisNovel 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 lipofuscinosisProgression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosisGenome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variationThe genetic spectrum of human neuronal ceroid-lipofuscinoses.Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.The neuronal ceroid-lipofuscinoses.Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese populationSustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid LipofuscinosisThe intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese PopulationOpening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.Biometals in rare neurodegenerative disorders of childhood.Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.NCLs and ER: A stressful relationship.CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.
P2860
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P2860
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
description
2000 nî lūn-bûn
@nan
2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@ast
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en-gb
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@nl
type
label
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@ast
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en-gb
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@nl
prefLabel
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@ast
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en-gb
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@nl
P2093
P356
P1476
The neuronal ceroid lipofuscin ...... t of the endoplasmic reticulum
@en
P2093
P304
P356
10.1093/HMG/9.11.1691
P407
P577
2000-07-01T00:00:00Z