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个人简介
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 232 篇作者统计合作学者相似作者
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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)
Iva Ganeva,Koini Lim,Jerome Boulanger,Patrick C Hoffmann, Olivia Muriel, Alicia C Borgeaud,Wim J H Hagen,David B Savage,Wanda Kukulski
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)
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)
FEBS letters (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,
biorxiv(2023)
Benjamin A. Adler,Muntathar J. Al-Shimary,Jaymin R. Patel,Emily Armbruster,David Colognori,Emeric J. Charles, Kate V. Miller,Arushi Lahiri,Marena Trinidad, Ron Boger, Jason Nomburg, Sebastien Beurnier,
bioRxiv (Cold Spring Harbor Laboratory) (2023)
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