(Q57373773)

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Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

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scholarly article

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Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse (English)

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molecular biology

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GOA release 2020-03-11

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based on heuristic

inferred from title

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based on heuristic

inferred from title

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based on heuristic

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author name string

Junko Matsuda

1

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Makiko Kido

2

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Keiko Tadano-Aritomi

3

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Ineo Ishizuka

4

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Kumiko Tominaga

5

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Kazunori Toida

6

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Eiji Takeda

7

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Kunihiko Suzuki

8

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Yasuhiro Kuroda

9

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publication date

2 September 2004

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Human Molecular Genetics

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13

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21

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2709-2723

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A role for lipid shells in targeting proteins to caveolae, rafts, and other lipid domains

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

On the chemistry and occurrence of sphingolipid long-chain bases

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Farber's disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Interaction of saposin D with membranes: effect of anionic phospholipids and sphingolipids

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Functions of ceramide in coordinating cellular responses to stress

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Chemically defined neuron groups and their subpopulations in the glomerular layer of the rat main olfactory bulb--IV. Intraglomerular synapses of tyrosine hydroxylase-immunoreactive neurons

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

TLC blotting: application to microscale analysis of lipids and as a new approach to lipid-protein interaction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH281

21 January 2018

Identifiers

10.1093/HMG/DDH281

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