Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein

scientific article published on December 2003

Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1046/J.1471-4159.2003.02132.X
P698PubMed publication ID14622109
P5875ResearchGate publication ID6796640

P50authorMasato KoikeQ30502278
P2093author name stringTakashi Ueno
Yasuo Uchiyama
Eiki Kominami
Hikari Taka
Kimie Murayama
Reiko Mineki
Junji Ezaki
Yoshiyuki Ohsawa
Mitsue Takeda-Ezaki
P2860cites workCharacterization of new fluorogenic substrates for the rapid and sensitive assay of cathepsin E and cathepsin DQ28144846
The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthaseQ41197592
Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)Q42072990
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectjuvenile neuronal ceroid lipofuscinosisQ1753778
P304page(s)1296-1308
P577publication date2003-12-01
P1433published inJournal of NeurochemistryQ6295643
P1476titleCharacterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein
P478volume87

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cites work (P2860)
Q45094647A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting
Q81250919A knock-in reporter model of Batten disease
Q39833413A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures
Q36473670A 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.
Q47956189A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
Q34014206A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells
Q28591948Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
Q55043107C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
Q90298722CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease
Q33242003Components of the antigen processing and presentation pathway revealed by gene expression microarray analysis following B cell antigen receptor (BCR) stimulation
Q34427575Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
Q24292865Defective lysosomal arginine transport in juvenile Batten disease
Q47069352Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.
Q27318704FRET-assisted determination of CLN3 membrane topology
Q33630706Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease
Q28289653Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function
Q47134547Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein mutated in juvenile Batten disease
Q37109009Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis
Q24791822Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Q37394217Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).
Q42438650Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.
Q34805162Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.
Q34588532Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span
Q42563162S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p
Q90377163The CLN3 gene and protein: What we know
Q42040450The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
Q37238448The function of CLN3P, the Batten disease protein
Q35681065The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
Q34271805The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
Q82634634The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction
Q31148303The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data
Q37944570Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
Q37260497Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
Q39598497btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe

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