(Q53469081)

14 May 2018

title

Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome. (English)

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14 May 2018

author name string

Yoshikazu Uchida

1

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14 May 2018

Yunhi Cho

2

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14 May 2018

Sam Moradian

3

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14 May 2018

Jungmin Kim

4

1 reference

14 May 2018

Kimiko Nakajima

5

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14 May 2018

Debra Crumrine

6

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14 May 2018

Kyungho Park

7

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14 May 2018

Mayumi Ujihara

8

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14 May 2018

Masashi Akiyama

9

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14 May 2018

Hiroshi Shimizu

10

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14 May 2018

Walter M Holleran

11

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14 May 2018

Shigetoshi Sano

12

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14 May 2018

Peter M Elias

13

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14 May 2018

language of work or name

English

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publication date

3 June 2010

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14 May 2018

Journal of Investigative Dermatology

published in

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14 May 2018

volume

130

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14 May 2018

issue

10

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14 May 2018

page(s)

2497-2499

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14 May 2018

https://scigraph.springernature.com/pub.10.1038/jid.2010.145

exact match

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cites work

CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Omega-hydroxyceramides are required for corneocyte lipid envelope (CLE) formation and normal epidermal permeability barrier function

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58).

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Lipopenia and skin barrier abnormalities in DGAT2-deficient mice

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Vitamin C stimulates sphingolipid production and markers of barrier formation in submerged human keratinocyte cultures

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Omega-O-acylceramide, a lipid essential for mammalian survival

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.145

7 January 2021

Identifiers

DOI

10.1038/JID.2010.145

1 reference

14 May 2018

1 reference

14 May 2018