Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
about
Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case studyProtein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase AKufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterClassification and natural history of the neuronal ceroid lipofuscinosesA murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human diseaseDistinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cellsInteractions 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 lipofuscinosisLarge-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous systemLysine 43 is trimethylated in subunit C from bovine mitochondrial ATP synthase and in storage bodies associated with batten disease.X-ray fluorescence imaging reveals subcellular biometal disturbances in a childhood neurodegenerative disorder.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.Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosisThe genetic spectrum of human neuronal ceroid-lipofuscinoses.Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.The CLN9 protein, a regulator of dihydroceramide synthase.Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life spanTopology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementationTargeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.The neuronal ceroid-lipofuscinoses.Molecular background of progressive myoclonus epilepsy.Lentiviral-mediated gene transfer to the sheep brain: implications for gene therapy in Batten disease.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.Selectivity and types of cell death in the neuronal ceroid lipofuscinoses.The cell biology of lysosomal storage disorders.Biometals in rare neurodegenerative disorders of childhood.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 lipofuscinosisCln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Molecular 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.
P2860
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P2860
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
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2002 nî lūn-bûn
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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2002 թվականի փետրվարին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@ast
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@en
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@nl
type
label
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@ast
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@en
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@nl
prefLabel
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@ast
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@en
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@nl
P2093
P2860
P50
P356
P1476
Mutations in a novel CLN6-enco ...... ipofuscinosis in man and mouse
@en
P2093
Derek Stout
Hanlin Gao
Janice A Espinola
Jerry R Faust
Kristen Auger Antonellis
Lakshmi Srinidhi
Leah R Donahue
Roderick T Bronson
Rose-Mary N Boustany
Shumei Liu
P2860
P304
P356
10.1086/338190
P407
P577
2002-02-01T00:00:00Z