(Q44186141)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

0 references

1 reference

neuronal ceroid lipofuscinosis

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Griffin JL

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Muller D

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Woograsingh R

3

1 reference

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14 December 2019

Jowatt V

4

1 reference

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14 December 2019

Nicholson JK

6

1 reference

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14 December 2019

Martin JE

7

1 reference

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14 December 2019

publication date

3 December 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

published in

Physiological Genomics

1 reference

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14 December 2019

volume

11

1 reference

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14 December 2019

issue

3

1 reference

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14 December 2019

page(s)

195-203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12388797%20AND%20SRC:MED&resulttype=core&format=json

Evidence supporting a role for N-acetyl-l-aspartate as a molecular water pump in myelinated neurons in the central nervous system

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Batten's disease: clues to neuronal protein catabolism in lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

1H NMR visible lipids in the life and death of cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

The relationship between lipofuscin pigment and ageing in the human nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Autosomal dominance in a late-onset motor neuron disease in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Molecular genetics of the neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Metabonomics: a platform for studying drug toxicity and gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

Brain Metabolism during Fasting*

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

A functional genomics strategy that uses metabolome data to reveal the phenotype of silent mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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/10.1152%2FPHYSIOLGENOMICS.00100.2002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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/10.1152%2FPHYSIOLGENOMICS.00100.2002

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00100.2002