(Q48047362)

8 February 2018

title

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene (English)

1 reference

8 February 2018

Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene (English)

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Niemann–Pick disease, type C

3 September 2024

main subject

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

S. K. Loftus

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

W. J. Pavan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

J. A. Morris

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

E. D. Carstea

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

J. Z. Gu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

C. Cummings

1 reference

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3 September 2024

A. Brown

1 reference

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3 September 2024

J. Ellison

1 reference

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3 September 2024

K. Ohno

1 reference

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3 September 2024

M. A. Rosenfeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9211850

3 September 2024

D. A. Tagle

1 reference

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3 September 2024

P. G. Pentchev

1 reference

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3 September 2024

language of work or name

English

0 references

publication date

1 July 1997

1 reference

8 February 2018

11 July 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9211850

full work available at URL

3 September 2024

https://www.science.org/doi/pdf/10.1126/science.277.5323.232

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

3 September 2024

1 reference

8 February 2018

volume

277

1 reference

8 February 2018

issue

5323

1 reference

8 February 2018

page(s)

232-235

1 reference

8 February 2018

Intracellular trafficking of cholesterol monitored with a cyclodextrin

cites work

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

High-resolution mapping of the spm (Niemann-Pick Type C) locus on mouse chromosome 18

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C.

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Basic local alignment search tool

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Isolation of novel human endogenous retrovirus-like elements with foamy virus-related pol sequence.

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Molecular characterization of the MT-family of dispersed middle-repetitive DNA in rodent genomes

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Identification of a new, abundant superfamily of mammalian LTR-transposons

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

The NP-C gene: a key to pathways of intracellular cholesterol transport.

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

On the predictive recognition of signal peptide sequences

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

The detection and classification of membrane-spanning proteins.

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

A novel di-leucine motif and a tyrosine-based motif independently mediate lysosomal targeting and endocytosis of CD3 chains

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Intracellular trafficking of lysosomal membrane proteins.

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Membrane-bound domain of HMG CoA reductase is required for sterol-enhanced degradation of the enzyme

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Cholesterol, hedgehog and embryogenesis.

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Cholesterol modification of hedgehog signaling proteins in animal development

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

The isolation and characterization of sphingomyelinase from human placental tissue

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

Location of the 9257 and ataxia mutations on mouse chromosome 18

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

The gene family encoding the mouse ribosomal protein L32 contains a uniquely expressed intron-containing gene and an unmutated processed gene

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

A workbench for multiple alignment construction and analysis

3 September 2024

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.277.5323.232

3 September 2024

Identifiers

DOI

1 reference

8 February 2018

1 reference

8 February 2018