Seipinopathy: a novel endoplasmic reticulum stress-associated disease (Q28293837)

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

Europe PubMed Central

title

Seipinopathy: a novel endoplasmic reticulum stress-associated disease (English)

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main subject

endoplasmic reticulum

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Daisuke Ito

1

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Norihiro Suzuki

object named as

Norihiro Suzuki

series ordinal

2

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language of work or name

English

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publication date

January 2009

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published in

Brain

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volume

132

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page(s)

8-15

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issue

Pt 1

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cites work

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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

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A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress

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The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

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Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

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Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation

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

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

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21 January 2018

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21 January 2018

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

21 January 2018

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A novel inhibitor of advanced glycation and endoplasmic reticulum stress reduces infarct volume in rat focal cerebral ischemia.

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Aggresomes formed by alpha-synuclein and synphilin-1 are cytoprotective

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21 January 2018

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Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice.

21 January 2018

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21 January 2018

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ER stress and UPR in familial amyotrophic lateral sclerosis.

21 January 2018

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BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

21 January 2018

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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation

21 January 2018

1 reference

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

21 January 2018

1 reference

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Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Membrane topology of the human seipin protein

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWN216

1 reference

Consolidated OpenCitations Corpus – April 2017

release_mgfxmy5idjb7baqkrqqw7ifmie

4420119

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mgfxmy5idjb7baqkrqqw7ifmie

mapped directly with Wikidata item

24 November 2022

based on heuristic

4420119

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference