scholarly article | Q13442814 |
P50 | author | Kaisu Luiro | Q57567055 |
P2093 | author name string | M Lehtovirta | |
A Jalanko | |||
O Kopra | |||
P433 | issue | 19 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) | Q14905130 |
CLN3 lysosomal/endosomal transmembrane protein, battenin | Q1500005 | ||
P304 | page(s) | 2123-2131 | |
P577 | publication date | 2001-09-01 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease | |
P478 | volume | 10 |
Q45094647 | A 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 |
Q24298716 | A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes |
Q81250919 | A knock-in reporter model of Batten disease |
Q34007930 | A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses |
Q40480798 | AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. |
Q28513970 | CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events |
Q28271390 | CLN3p impacts galactosylceramide transport, raft morphology, and lipid content |
Q24299818 | CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein |
Q34427575 | Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses |
Q31120806 | Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin |
Q47140069 | Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. |
Q47069352 | Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype. |
Q21090977 | Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis |
Q28589863 | Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis |
Q48397854 | Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease |
Q58762327 | Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage |
Q28114924 | Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue |
Q28289653 | Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function |
Q47134547 | Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein mutated in juvenile Batten disease |
Q28728782 | Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system |
Q27334931 | Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3 |
Q24791822 | Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis |
Q55541817 | Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo. |
Q37378095 | Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease |
Q43068346 | NCL in animal models |
Q24301862 | Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3 |
Q43851305 | Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain |
Q24302244 | Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments |
Q36685260 | Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. |
Q38115191 | Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum |
Q42438650 | Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. |
Q28115540 | Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins |
Q34805162 | Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. |
Q40309067 | Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties |
Q24307987 | Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing |
Q33911122 | Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles |
Q36302113 | Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). |
Q42069362 | Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo |
Q21203028 | Retinitis pigmentosa |
Q48465441 | Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. |
Q42563162 | S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p |
Q35681068 | Selectivity and types of cell death in the neuronal ceroid lipofuscinoses |
Q36915061 | Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery |
Q90377163 | The CLN3 gene and protein: What we know |
Q34182582 | The Finnish Disease Heritage III: the individual diseases |
Q28569453 | The H+-coupled electrogenic lysosomal amino acid transporter LYAAT1 localizes to the axon and plasma membrane of hippocampal neurons |
Q46844440 | The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals |
Q37238448 | The function of CLN3P, the Batten disease protein |
Q34302797 | The genetic spectrum of human neuronal ceroid-lipofuscinoses |
Q34271805 | The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking |
Q24793088 | The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy |
Q24294224 | The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations |
Q35045618 | The neuronal ceroid-lipofuscinoses |
Q37014856 | The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice |
Q40648630 | Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells |
Q39598497 | btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe |
Q42250217 | in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels |
Search more.