(Q24540041)

English

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

scientific article published in June 1999

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scholarly article

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

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Infantile neuronal ceroid lipofuscinosis

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neurodegeneration

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based on heuristic

inferred from title

mutational analysis

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based on heuristic

inferred from title

Rose-Mary Boustany

9

object named as

R M Boustany

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author name string

D E Sleat

1

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R M Gin

2

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I Sohar

3

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K Wisniewski

4

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S Sklower-Brooks

5

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R K Pullarkat

6

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D N Palmer

7

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T J Lerner

8

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P Uldall

10

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A N Siakotos

11

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R J Donnelly

12

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P Lobel

13

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language of work or name

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publication date

June 1999

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American Journal of Human Genetics

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64

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1511-23

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6

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

Spectrum of mutations in the Batten disease gene, CLN3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

24 March 2017

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

A yeast model for the study of Batten disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

27 September 2017

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

29 November 2018

Studies of atypical JNCL suggest overlapping with other NCL forms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377895

29 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An assay to detect glycoproteins that contain mannose 6-phosphate

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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]

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302427

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1086%2F302427

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302427

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_ktcnkhjjnzfezp6o57jh4qsnla

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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