Towards a mechanistic understanding of lipodystrophy and seipin functions (Q34278915)

1 August 2017

12 references

24 March 2019

22 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

11 October 2019

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15 December 2019

6 November 2020

Towards a mechanistic understanding of lipodystrophy and seipin functions (English)

1 reference

congenital generalized lipodystrophy

1 August 2017

12 references

24 March 2019

22 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

11 October 2019

20 November 2019

28 November 2019

15 December 2019

6 November 2020

1 reference

14 September 2019

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28 September 2019

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11 October 2019

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20 November 2019

1 reference

28 November 2019

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15 December 2019

1 reference

6 November 2020

Kenneth Wee

1

1 reference

1 August 2017

Wulin Yang

series ordinal

2

1 reference

1 August 2017

Shigeki Sugii

series ordinal

3

1 reference

1 August 2017

Weiping Han

series ordinal

4

1 reference

1 August 2017

language of work or name

1 reference

2 October 2014

13 references

1 August 2017

24 March 2019

22 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

11 October 2019

20 November 2019

28 November 2019

15 December 2019

6 November 2020

13 references

1 August 2017

24 March 2019

22 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

11 October 2019

20 November 2019

28 November 2019

15 December 2019

6 November 2020

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1 August 2017

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Creative Commons Attribution 3.0 Unported

1 August 2017

12 references

24 March 2019

22 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

11 October 2019

20 November 2019

28 November 2019

15 December 2019

on focus list of Wikimedia project

6 November 2020

copyright status

copyrighted

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ScienceSource

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cites work

Seipin promotes adipose tissue fat storage through the ER Ca²⁺-ATPase SERCA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Role of seipin in lipid droplet morphology and hepatitis C virus life cycle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Function of seipin: new insights from Bscl2/seipin knockout mouse models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

A new seipin-associated neurodegenerative syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Motor neuron degeneration in a mouse model of seipinopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Obesity-induced endoplasmic reticulum stress causes chronic inflammation in adipose tissue

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Seipin: from human disease to molecular mechanism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Suppression of lipin-1 expression increases monocyte chemoattractant protein-1 expression in 3T3-L1 adipocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Forming functional fat: a growing understanding of adipocyte differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Seipin is a discrete homooligomer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Lipin 1 represses NFATc4 transcriptional activity in adipocytes to inhibit secretion of inflammatory factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Inflammation and adipose tissue macrophages in lipodystrophic mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Lipin1 is a key factor for the maturation and maintenance of adipocytes in the regulatory network with CCAAT/enhancer-binding protein alpha and peroxisome proliferator-activated receptor gamma 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

A critical role of cavin (polymerase I and transcript release factor) in caveolae formation and organization.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

The multiple faces of caveolae

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Role of caveolin-1 and cholesterol in transmembrane fatty acid movement.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Caveolin, cholesterol, and lipid bodies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Caveolin-1 in oncogenic transformation, cancer, and metastasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Acquired and inherited lipodystrophies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Dynamic and regulated association of caveolin with lipid bodies: modulation of lipid body motility and function by a dominant negative mutant

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

An undiagnosed endocrinometabolic syndrome: report of 2 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Interleukin-6 (IL-6) induces insulin resistance in 3T3-L1 adipocytes and is, like IL-8 and tumor necrosis factor-alpha, overexpressed in human fat cells from insulin-resistant subjects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Prevalence of mutations in AGPAT2 among human lipodystrophies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Caveolin-1-deficient mice show insulin resistance and defective insulin receptor protein expression in adipose tissue

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Interleukin-6 induces cellular insulin resistance in hepatocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

The structure and functions of human lysophosphatidic acid acyltransferases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Identification of caveolin-1 as a fatty acid binding protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Serum adiponectin and leptin levels in patients with lipodystrophies

6 July 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Seipin regulates excitatory synaptic transmission in cortical neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Caveolin-1 regulates transforming growth factor (TGF)-beta/SMAD signaling through an interaction with the TGF-beta type I receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

A role for seipin in lipid droplet dynamics and inheritance in yeast.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Caveolin-1 null mice are viable but show evidence of hyperproliferative and vascular abnormalities

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Association of severe insulin resistance with both loss of limb fat and elevated serum tumor necrosis factor receptor levels in HIV lipodystrophy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4182903

Membrane topology of the human seipin protein

28 October 2018

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140114

Analysis of amino acid motifs diagnostic for the sn-glycerol-3-phosphate acyltransferase reaction

21 January 2018

1 reference

12 December 2020

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

1 reference

12 December 2020

A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene

1 reference

12 December 2020

Pathology of congenital generalized lipodystrophy in Agpat2-/- mice

1 reference

12 December 2020

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

1 reference

12 December 2020

Identifiers

DOI

10.1042/BSR20140114

1 reference

1 August 2017

1 reference

1 August 2017

1 reference