Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs) (Q24291928)

CLN3 lysosomal/endosomal transmembrane protein, battenin

1 reference

Palmitoyl-protein thioesterase 1

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CLN5 intracellular trafficking protein

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lysosomal lumen acidification

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author name string

J M Holopainen

1

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J Saarikoski

2

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P K Kinnunen

3

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I Järvelä

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

4

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language of work or name

English

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publication date

November 2001

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published in

FEBS Journal

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volume

268

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issue

22

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page(s)

5851-6

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cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

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Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

21 January 2018

1 reference

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Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Batten disease: evaluation of CLN3 mutations on protein localization and function

21 January 2018

1 reference

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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.

21 January 2018

1 reference

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Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Regulation of intracellular pH in salamander retinal rods

21 January 2018

1 reference

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A novel acidotropic pH indicator and its potential application in labeling acidic organelles of live cells

21 January 2018

1 reference

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Rapid diagnostic test for the major mutation underlying Batten disease

21 January 2018

1 reference

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Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Intracellular pH measurements in Ehrlich ascites tumor cells utilizing spectroscopic probes generated in situ

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Cell-cell contacts alter intracellular pH.

21 January 2018

1 reference

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Fluorescence probe measurement of the intralysosomal pH in living cells and the perturbation of pH by various agents

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Membrane transport in the endocytic pathway

21 January 2018

1 reference

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Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes. Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Solvent polarity and pH effects on the spectroscopic properties of neutral red: application to lysosomal microenvironment probing in living cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Batten's disease: eight genes and still counting?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Elevated lysosomal pH in Mucolipidosis type IV cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Lifetime-based pH sensors: indicators for acidic environments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Synaptic vesicle recycling in cultured cerebellar granule cells: role of vesicular acidification and refilling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Expression of palmitoyl protein thioesterase in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

1 reference

https://api.crossref.org/works/10.1046%2FJ.0014-2956.2001.02530.X