The function of CLN3P, the Batten disease protein (Q37238448)

19 August 2017

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title

The function of CLN3P, the Batten disease protein (English)

1 reference

19 August 2017

Dinesh Rakheja

1

1 reference

PubMed ID

18688960

19 August 2017

Srinivas B Narayan

series ordinal

2

1 reference

PubMed ID

18688960

19 August 2017

Michael J Bennett

series ordinal

3

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19 August 2017

1 March 2008

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Molecular Genetics and Metabolism

19 August 2017

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19 August 2017

93

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19 August 2017

3

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19 August 2017

269-274

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The neuronal ceroid-lipofuscinoses

19 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

First African-American child with juvenile neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Childhood neuronal ceroid-lipofuscinoses in Argentina.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Lysosomal targeting of palmitoyl-protein thioesterase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Isolation of a novel gene underlying batten disease, CLN3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Kufs' disease: a critical reappraisal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

The CLN9 protein, a regulator of dihydroceramide synthase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3, the protein associated with batten disease: structure, function and localization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Tissue expression and subcellular localization of CLN3, the Batten disease protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

The Batten disease gene product (CLN3p) is a Golgi integral membrane protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Neuronal ceroid lipofuscinosis: a common pathway?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Membrane topology of CLN3, the protein underlying Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

A yeast model for the study of Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

BTN1, a yeast gene corresponding to the human gene responsible for Batten's disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Defective lysosomal arginine transport in juvenile Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Nitric oxide signaling is disrupted in the yeast model for Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Apoptosis as the mechanism of neurodegeneration in Batten's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Cell death pathways in juvenile Batten disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Fatty acylation of proteins: new insights into membrane targeting of myristoylated and palmitoylated proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Lipid-dependent Targeting of G Proteins into Rafts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

A novel role of the Batten disease gene CLN3: association with BMP synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

Transacylase and phospholipases in the synthesis of bis(monoacylglycero)phosphate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

The Newfoundland aggregate of neuronal ceroid-lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

inferred from DOI database lookup

7 January 2021

based on heuristic

Kufs disease: clinical features and forms

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.001

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2008.01.001

1 reference

19 August 2017

1 reference

PubMed ID

18688960