Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function (Q28289653)

neuronal ceroid lipofuscinosis

Europe PubMed Central

title

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function (English)

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main subject

cell biology

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1 reference

Amanda L Getty

1

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David A Pearce

series ordinal

2

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language of work or name

English

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publication date

February 2011

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published in

Cellular and Molecular Life Sciences

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volume

68

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page(s)

453-74

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issue

3

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exact match

https://scigraph.springernature.com/pub.10.1007/s00018-010-0468-6

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cites work

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The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis

20 March 2017

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Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

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Cathepsin D links TNF-induced acid sphingomyelinase to Bid-mediated caspase-9 and -3 activation

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

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Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins

20 March 2017

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20 March 2017

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

20 March 2017

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

20 March 2017

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20 March 2017

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20 March 2017

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

20 March 2017

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Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

20 March 2017

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

20 March 2017

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

20 March 2017

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20 March 2017

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Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment

20 March 2017

1 reference

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

20 March 2017

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Major facilitator superfamily

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

20 March 2017

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

20 March 2017

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Lysosomal targeting of palmitoyl-protein thioesterase

20 March 2017

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20 March 2017

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Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells

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

20 March 2017

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

20 March 2017

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A novel genetic system to detect protein-protein interactions

20 March 2017

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Ankyrin-B is required for coordinated expression of beta-2-spectrin, the Na/K-ATPase and the Na/Ca exchanger in the inner segment of rod photoreceptors

20 March 2017

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Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin

20 March 2017

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Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

20 March 2017

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20 March 2017

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Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis

20 March 2017

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Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL

20 March 2017

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Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

20 March 2017

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Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1

20 March 2017

1 reference

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The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Molecular cloning and expression of palmitoyl-protein thioesterase

20 March 2017

1 reference

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Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras

20 March 2017

1 reference

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A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells

20 March 2017

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Pathophysiological functions of cathepsin D: Targeting its catalytic activity versus its protein binding activity?

29 September 2017

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Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif

29 September 2017

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Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Na,K-ATPase activity regulates AMPA receptor turnover through proteasome-mediated proteolysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Notch: from neural development to neurological disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cathepsin D: a cellular roadmap

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Functional roles of Na,K-ATPase subunits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cathepsin D protects human neuroblastoma cells from doxorubicin-induced cell death

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Modulation by clamping: Kv4 and KChIP interactions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Neuronal ceroid lipofuscinosis: a common pathway?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Tripeptidyl-peptidase I in health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Function of FXYD proteins, regulators of Na, K-ATPase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cathepsin D deficiency is associated with a human neurodegenerative disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Phylogeny, sequence conservation, and functional complementation of the SBDS protein family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

You say lipofuscin, we say ceroid: defining autofluorescent storage material

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

GSK-3beta regulates phosphorylation of CRMP-2 and neuronal polarity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Structure and function of Kv4-family transient potassium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

The cell biology of lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Intracellular calcium modulates the nuclear translocation of calsenilin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Role of CRMP-2 in neuronal polarity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cathepsin D mediates cytochrome c release and caspase activation in human fibroblast apoptosis induced by staurosporine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

FXYD proteins: new tissue-specific regulators of the ubiquitous Na,K-ATPase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Mutations in SBDS are associated with Shwachman-Diamond syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Protein palmitoylation: a regulator of neuronal development and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Biochemistry of Na,K-ATPase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Searching for interacting partners of CLN1, CLN2 and Btn1p with the two-hybrid system.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Transcript identification on the CLN5 region on chromosome 13q22.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Mutations in the Drosophila hook gene inhibit endocytosis of the boss transmembrane ligand into multivesicular bodies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

A membrane-cytoskeletal complex containing Na+,K+-ATPase, ankyrin, and fodrin in Madin-Darby canine kidney (MDCK) cells: implications for the biogenesis of epithelial cell polarity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Isozymes of the Na-K-ATPase: heterogeneity in structure, diversity in function.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Degradation of tau by lysosomal enzyme cathepsin D: implication for Alzheimer neurofibrillary degeneration.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

The mago nashi gene is required for the polarisation of the oocyte and the formation of perpendicular axes in Drosophila.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

2 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

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/10.1007%2FS00018-010-0468-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Altered regulation of phosphatidylinositol 3-kinase signaling in cathepsin D-deficient brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

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/10.1007%2FS00018-010-0468-6

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Glutamate transporter coupling to Na,K-ATPase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

DREAM mediates cAMP-dependent, Ca2+-induced stimulation of GFAP gene expression and regulates cortical astrogliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Activated Notch2 signaling inhibits differentiation of cerebellar granule neuron precursors by maintaining proliferation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Sdo1p, the yeast orthologue of Shwachman-Bodian-Diamond syndrome protein, binds RNA and interacts with nuclear rRNA-processing factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

TRAM regulates the exposure of nascent secretory proteins to the cytosol during translocation into the endoplasmic reticulum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

The catalytically inactive precursor of cathepsin D induces apoptosis in human fibroblasts and HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Differential Regulation of ATP Binding Cassette Protein A1 Expression and ApoA-I Lipidation by Niemann-Pick Type C1 in Murine Hepatocytes and Macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

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/10.1007%2FS00018-010-0468-6

The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

CRMP-2 induces axons in cultured hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-010-0468-6

Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

CLN-encoded proteins do not interact with each other.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120758

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

27 November 2018

1 reference

12 December 2020

Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease)

1 reference

12 December 2020

Immunochemical localization of the Batten disease (CLN3) protein in retina

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CLN-3 protein is expressed in the pancreatic somatostatin-secreting delta cells

1 reference

12 December 2020

Identification and validation of mannose 6-phosphate glycoproteins in human plasma reveal a wide range of lysosomal and non-lysosomal proteins

1 reference

12 December 2020

Expression of palmitoyl protein thioesterase in neurons

1 reference

12 December 2020

The domain of brain beta-spectrin responsible for synaptic vesicle association is essential for synaptic transmission

1 reference

12 December 2020