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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).
Research Interests
Papers共 248 篇Author StatisticsCo-AuthorSimilar Experts
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Journal of Biological Chemistrypp.107532-107532, (2024)
Yajie Zhao, Sam Lockhart,Jimmy Liu,Xihao Li, Adrian Cortes,Xing Hua,Eugene J. Gardner,Katherine A. Kentistou, Yancy Lo, Jonathan Davitte,David B. Savage, Carolyn Buser-Doepner,
medrxiv(2024)
Mueed Azhar,Laura P E Watson,Emanuella De Lucia Rolfe, Michele Ferraro, Katherine Carr,Jieniean Worsley,Chris Boesch,Leanne Hodson,Krishna K Chatterjee,Graham J Kemp,David B Savage,Alison Sleigh
crossref(2023)
Benjamin A. Adler,Marena Trinidad, Daniel Bellieny-Rabelo, Elaine Zhang, Hannah M. Karp,Petr Skopintsev,Brittney W. Thornton, Rachel F. Weissman,Peter H. Yoon,Linxing Chen,Tomas Hessler,Amy R. Eggers,
Nucleic acids research (2023)
BIOCHEMISTRYno. 2 (2023): 219-229
Emily G Armbruster,Jina Lee,Joshua Hutchings, Arica R VanderWal,Eray Enustun,Benja-Min A Adler, Ann Aindow,Amar Deep, Zaida K Rodriguez,Chase J Morgan,Majid Ghassemian,Emeric Charles,
bioRxiv : the preprint server for biology (2023)
Elizabeth C. Stahl,Jennifer K. Sabo,Min Hyung Kang,Ryan Allen, Elizabeth Applegate,Shin Eui Kim, Yoonjin Kwon,Anmol Seth, Nicholas Lemus, Viviana Salinas-Rios,Katarzyna Soczek,Marena Trinidad,
Molecular Therapyno. 8 (2023): 2422-2438
FEBS letters (2023)
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