(Q51373568)

4 April 2018

title

Seipin ablation in mice results in severe generalized lipodystrophy. (English)

1 reference

4 April 2018

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

main subject

1 reference

GOA release 2020-03-11

author

Hongyuan Yang

11

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4 April 2018

author name string

Xin Cui

1

1 reference

4 April 2018

Yuhui Wang

2

1 reference

4 April 2018

Yin Tang

3

1 reference

4 April 2018

Yixiao Liu

4

1 reference

4 April 2018

Liping Zhao

5

1 reference

4 April 2018

Jingna Deng

6

1 reference

4 April 2018

Guoheng Xu

7

1 reference

4 April 2018

Xingui Peng

8

1 reference

4 April 2018

Shenghong Ju

9

1 reference

4 April 2018

George Liu

10

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4 April 2018

publication date

6 May 2011

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4 April 2018

published in

Human Molecular Genetics

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4 April 2018

volume

20

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4 April 2018

issue

15

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4 April 2018

page(s)

3022-3030

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4 April 2018

Genetic basis of lipodystrophies and management of metabolic complications

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Seipin: a mysterious protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Seipin is a discrete homooligomer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Mouse models of inherited lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Metabolic consequences of lipodystrophy in mouse models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

ACRP30/adiponectin: an adipokine regulating glucose and lipid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Adipose tissue as an endocrine organ

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Cideb, an ER- and lipid droplet-associated protein, mediates VLDL lipidation and maturation by interacting with apolipoprotein B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Life without white fat: a transgenic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Zp3-cre, a transgenic mouse line for the activation or inactivation of loxP-flanked target genes specifically in the female germ line

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

Real-time quantitative RT-PCR after laser-assisted cell picking

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR205

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR205

1 reference

4 April 2018

PubMed ID

21551454

1 reference

4 April 2018