CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
about
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brainElevated 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 proteinNeuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case studyMutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorderMutations 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 transporterDistinct 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 proteinsThe role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sortingInteractions of the proteins of neuronal ceroid lipofuscinosis: clues to functionExpression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosisGenetics and epilepsy.A 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.Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.Recent advances in the genetics of epilepsy: insights from human and animal studies.Genetics of childhood epilepsyDistribution and medical impact of loss-of-function variants in the Finnish founder population.A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.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.Advances in the genetics of progressive myoclonus epilepsy.The CLN9 protein, a regulator of dihydroceramide synthase.Database for the mutations of the Finnish disease heritage.Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life spanGenetics of population isolates.The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.The neuronal ceroid-lipofuscinoses.Molecular background of progressive myoclonus epilepsy.Genetics of inherited human epilepsiesA 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.Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease.The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Selectivity and types of cell death in the neuronal ceroid lipofuscinoses.
P2860
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P2860
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@ast
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en-gb
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
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type
label
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@ast
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en-gb
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@nl
prefLabel
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@ast
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en-gb
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@nl
P2093
P921
P3181
P356
P1433
P1476
CLN5, a novel gene encoding a ...... neuronal ceroid lipofuscinosis
@en
P2093
L Peltonen
M Savukoski
P Santavuori
T Klockars
V Holmberg
P2888
P3181
P356
10.1038/975
P407
P50
P577
1998-07-01T00:00:00Z
P5875
P6179
1035922011