The genetic spectrum of human neuronal ceroid-lipofuscinoses (Q34302797)

1 August 2017

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title

The genetic spectrum of human neuronal ceroid-lipofuscinoses (English)

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1 August 2017

Sara E Mole

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language of work or name

English

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publication date

1 January 2004

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1 August 2017

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

70-76

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

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.X

Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.X

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

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

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

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/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

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/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

Spectrum of mutations in the Batten disease gene, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

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/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.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.TB00500.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.TB00500.X

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.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.TB00500.X

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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.TB00500.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.TB00500.X

Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.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/10.1111%2FJ.1750-3639.2004.TB00500.X

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00500.X

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/10.1111%2FJ.1750-3639.2004.TB00500.X

10.1111/J.1750-3639.2004.TB00500.X

21 January 2018

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DOI

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1 August 2017

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