The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
about
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane proteinMass 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 ADisruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout miceMutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouseThe 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.Interactions 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 variationA system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.Lysine 43 is trimethylated in subunit C from bovine mitochondrial ATP synthase and in storage bodies associated with batten disease.Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.Genetics of childhood epilepsySeizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses.A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses.Prenatal diagnosis of the neuronal ceroid lipofuscinoses.A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons.2002 William Allen Award address. Introductory speech for Albert de la Chapelle.The genetic spectrum of human neuronal ceroid-lipofuscinoses.Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.The CLN9 protein, a regulator of dihydroceramide synthase.Database for the mutations of the Finnish disease heritage.Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses.Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life spanThe neuronal ceroid-lipofuscinoses.Molecular background of progressive myoclonus epilepsy.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 populationA reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis.A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.Sustained 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 PopulationGenetics of the neuronal ceroid lipofuscinoses (Batten disease).Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors.
P2860
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P2860
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@ast
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en-gb
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@nl
type
label
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@ast
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en-gb
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@nl
prefLabel
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@ast
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en-gb
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@nl
P2093
P356
P1433
P1476
The neuronal ceroid lipofuscin ...... ociated with mutations in CLN8
@en
P2093
A E Lehesjoki
A Hirvasniemi
A de la Chapelle
E Takkunen
M B Soares
P2888
P356
10.1038/13868
P407
P50
P577
1999-10-01T00:00:00Z
P5875
P6179
1030648036