Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired...
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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Author / Creator
Program for Undiagnosed Diseases (UD-PrOZA) , Schuermans, Nika , El Chehadeh, Salima , Hemelsoet, Dimitri , Gautheron, Jérémie , Vantyghem, Marie-Christine , Nouioua, Sonia , Tazir, Meriem , Vigouroux, Corinne , Auclair, Martine , Bogaert, Elke , Dufour, Sara , Okawa, Fumiya , Hilbert, Pascale , Van Doninck, Nike , Taquet, Marie-Caroline , Rosseel, Toon , De Clercq, Griet , Debackere, Elke , Van Haverbeke, Carole , Cherif, Ferroudja Ramdane , Urtizberea, Jon Andoni , Chanson, Jean-Baptiste , Funalot, Benoit , Authier, François-Jérôme , Kaya, Sabine , Terryn, Wim , Callens, Steven , Depypere, Bernard , Van Dorpe, Jo , Poppe, Bruce , Impens, Francis , Mizushima, Noboru , Depienne, Christel , Jéru, Isabelle and Dermaut, Bart
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as
Plaat3
deficiency in mice protects against diet-induced obesity. We identified seven patients from four unrelated consanguineous families, with...
Alternative Titles
Full title
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
Authors, Artists and Contributors
Author / Creator
Schuermans, Nika
El Chehadeh, Salima
Hemelsoet, Dimitri
Gautheron, Jérémie
Vantyghem, Marie-Christine
Nouioua, Sonia
Tazir, Meriem
Vigouroux, Corinne
Auclair, Martine
Bogaert, Elke
Dufour, Sara
Okawa, Fumiya
Hilbert, Pascale
Van Doninck, Nike
Taquet, Marie-Caroline
Rosseel, Toon
De Clercq, Griet
Debackere, Elke
Van Haverbeke, Carole
Cherif, Ferroudja Ramdane
Urtizberea, Jon Andoni
Chanson, Jean-Baptiste
Funalot, Benoit
Authier, François-Jérôme
Kaya, Sabine
Terryn, Wim
Callens, Steven
Depypere, Bernard
Van Dorpe, Jo
Poppe, Bruce
Impens, Francis
Mizushima, Noboru
Depienne, Christel
Jéru, Isabelle
Dermaut, Bart
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04385796v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04385796v1
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/s41588-023-01535-3
