The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases (Q33688378)

28 July 2017

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title

The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases (English)

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28 July 2017

Bennett MJ

1

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PubMed ID

10407785

28 July 2017

Hofmann SL

series ordinal

2

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28 July 2017

1 June 1999

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Journal of Inherited Metabolic Disease

28 July 2017

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28 July 2017

22

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28 July 2017

4

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28 July 2017

535-544

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https://scigraph.springernature.com/pub.10.1023/a:1005564509027

28 July 2017

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cites work

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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

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

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A variant of Jansky-Bielschowsky disease

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Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same NH2-terminal sequence

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INBORN LYSOSOMAL DISEASES.

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

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12 December 2020

Batten disease: past, present, and future.

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12 December 2020

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

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12 December 2020

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits

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12 December 2020

Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)

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12 December 2020

Spectrum of mutations in the Batten disease gene, CLN3

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12 December 2020

The spectrum of Jansky-Bielschowsky disease.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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]

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12 December 2020

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

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12 December 2020

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

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12 December 2020

Kufs' disease: a critical reappraisal

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12 December 2020

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

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12 December 2020

A yeast model for the study of Batten disease

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12 December 2020

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

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12 December 2020

Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease).

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12 December 2020

Molecular cloning and expression of palmitoyl-protein thioesterase

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Lysosomal targeting of palmitoyl-protein thioesterase

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12 December 2020

Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

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12 December 2020

Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms

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12 December 2020

Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease)

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12 December 2020

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

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12 December 2020

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

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12 December 2020

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

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12 December 2020

Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.

1 reference

12 December 2020

Isolation of a novel gene underlying batten disease, CLN3

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005564509027

7 January 2021

inferred from DOI database lookup

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

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005564509027

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005564509027

1 reference

PubMed ID

10407785

Dimensions Publication ID

28 July 2017

0 references

1 reference

PubMed ID

10407785