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Our work is currently focussed in three areas, all of which relate to lipodystrophy, a rare cluster of disorders, characterised by too little rather than too much fat (obesity). Remarkably, lipodystrophy is associated with all the features of the metabolic syndrome. Within the past decade we identified four novel subtypes of partial lipodystrophy; two caused by mutations in adipocyte lipid droplet proteins, one caused by loss-of-function mutations in Pcyt1a, the rate limiting enzyme in Kennedy pathway phosphatidylcholine synthesis, and one caused by mutations in MFN2, a key regulator of mitochondrial fusion. The group is actively engaged in studies aimed at understanding the key cell biological roles of these and other proteins involved in energy storage (see below).
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论文共 212 篇作者统计合作学者相似作者
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crossref(2023)
Iva Ganeva,Koini Lim,Jerome Boulanger,Patrick C Hoffmann, Olivia Muriel, Alicia C Borgeaud,Wim J H Hagen,David B Savage,Wanda Kukulski
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Molecular therapy : the journal of the American Society of Gene Therapyno. 8 (2023): 2422-2438
FEBS letters (2023)
biorxiv(2023)
Clinical endocrinologyno. 6 (2022): 755-762
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