The intracellular location and function of proteins of neuronal ceroid lipofuscinoses (Q35681065)

9 August 2017

1 reference

title

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses (English)

1 reference

9 August 2017

Junji Ezaki

1

1 reference

PubMed ID

14997940

9 August 2017

Eiki Kominami

series ordinal

2

1 reference

9 August 2017

1 January 2004

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9 August 2017

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9 August 2017

14

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9 August 2017

1

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9 August 2017

77-85

1 reference

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

9 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Rat tripeptidyl peptidase I: molecular cloning, functional expression, tissue localization and enzymatic characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Developmental expression of palmitoyl protein thioesterase in normal mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

A model for Batten disease protein CLN3: functional implications from homology and mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The expression of tripeptidyl peptidase I in various tissues of rats and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.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/10.1111%2FJ.1750-3639.2004.TB00501.X

Batten disease and the control of the Fo subunit c pore by cGMP and calcium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Membrane topology of CLN3, the protein underlying Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.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/10.1111%2FJ.1750-3639.2004.TB00501.X

A protein conjugation system essential for autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The mouse APG10 homologue, an E2-like enzyme for Apg12p conjugation, facilitates MAP-LC3 modification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Cloning and expression of an isovaleryl pepstatin-insensitive carboxyl proteinase gene from Xanthomonas sp. T-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Northern epilepsy, a new member of the NCL family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The spectrum of Jansky-Bielschowsky disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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/10.1111%2FJ.1750-3639.2004.TB00501.X

Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.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/10.1111%2FJ.1750-3639.2004.TB00501.X

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.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/10.1111%2FJ.1750-3639.2004.TB00501.X

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Palmitoyl-protein thioesterase, an enzyme implicated in neurodegeneration, is localized in neurons and is developmentally regulated in rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Apg7p/Cvt2p: A novel protein-activating enzyme essential for autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The human homolog of Saccharomyces cerevisiae Apg7p is a Protein-activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Degradation of lipid vesicles in the yeast vacuole requires function of Cvt17, a putative lipase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Lysosomal targeting of palmitoyl-protein thioesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The specificity of lysosomal tripeptidyl peptidase-I determined by its action on angiotensin-II analogues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

Carboxyl proteinase from Pseudomonas defines a novel family of subtilisin-like enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00501.X

10.1111/J.1750-3639.2004.TB00501.X

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference

PubMed ID

14997940