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

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

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http://www.wikidata.org/entity/Q37298726
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathySeipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology.Seipin is required for converting nascent to mature lipid dropletsSEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate AcyltransferaseLipin 2 binds phosphatidic acid by the electrostatic hydrogen bond switch mechanism independent of phosphorylation.Towards a mechanistic understanding of lipodystrophy and seipin functionsSeipin regulates ER-lipid droplet contacts and cargo delivery.The collaborative work of droplet assembly.Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesisThe Lipid Droplet and the Endoplasmic Reticulum.Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease.Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.Exploring Seipin: From Biochemistry to Bioinformatics Predictions
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Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

Item
http://www.wikidata.org/entity/Q37298726
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 30 August 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Analysis of naturally occurrin ...... otential pathogenic mechanisms
@en
Analysis of naturally occurrin ...... tential pathogenic mechanisms.
@nl
type
label
Analysis of naturally occurrin ...... otential pathogenic mechanisms
@en
Analysis of naturally occurrin ...... tential pathogenic mechanisms.
@nl
prefLabel
Analysis of naturally occurrin ...... otential pathogenic mechanisms
@en
Analysis of naturally occurrin ...... tential pathogenic mechanisms.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Analysis of naturally occurrin ...... otential pathogenic mechanisms
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932