(Q35045618)

6 August 2017

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title

The neuronal ceroid-lipofuscinoses (English)

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6 August 2017

Matti Haltia

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6 August 2017

language of work or name

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1 January 2003

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Journal of Neuropathology & Experimental Neurology

6 August 2017

published in

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6 August 2017

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6 August 2017

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6 August 2017

page(s)

1-13

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

6 August 2017

cites work

1 reference

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Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

21 January 2018

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

21 January 2018

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

21 January 2018

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Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease.

21 January 2018

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Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL).

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

21 January 2018

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Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

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Kufs' disease: a critical reappraisal

21 January 2018

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Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses

21 January 2018

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The spectrum of Jansky-Bielschowsky disease.

21 January 2018

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Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

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

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Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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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

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Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

21 January 2018

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Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures

21 January 2018

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Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

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Congenital ceroid-lipofuscinosis

21 January 2018

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An animal model of the infantile type of neuronal ceroid-lipofuscinosis

21 January 2018

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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/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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/10.1093%2FJNEN%2F62.1.1

Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

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A murine model for juvenile NCL: gene targeting of mouse Cln3

21 January 2018

1 reference

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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/10.1093%2FJNEN%2F62.1.1

Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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/10.1093%2FJNEN%2F62.1.1

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/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

The yeast model for batten disease: mutations in BTN1, BTN2, and HSP30 alter pH homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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/10.1093%2FJNEN%2F62.1.1

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

Developmental expression of palmitoyl protein thioesterase in normal mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

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/10.1093%2FJNEN%2F62.1.1

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/10.1093%2FJNEN%2F62.1.1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

Pathogenesis of brain dysfunction in Batten disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

Neuronal ceroid lipofuscinoses and possible pathogenic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.1.1

21 January 2018

Identifiers

DOI

10.1093/JNEN/62.1.1

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6 August 2017

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