Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Autor: Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons

Publikováno v: PLoS ONE, Vol 12, Iss 5, p e0176363 (2017)

Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described a

Externí odkaz: https://doaj.org/article/29039edbeca544bdbfd5fbbc95fd005c

IEA Wind Task 32: Wind Lidar Identifying and Mitigating Barriers to the Adoption of Wind Lidar

Autor: Andrew Clifton, Peter Clive, Julia Gottschall, David Schlipf, Eric Simley, Luke Simmons, Detlef Stein, Davide Trabucchi, Nikola Vasiljevic, Ines Würth

Publikováno v: Remote Sensing, Vol 10, Iss 3, p 406 (2018)

IEA Wind Task 32 exists to identify and mitigate barriers to the adoption of lidar for wind energy applications. It leverages ongoing international research and development activities in academia and industry to investigate site assessment, power per

Externí odkaz: https://doaj.org/article/1c4e94aa242a4cf18cd2d72c6dbefb51

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Autor: Pascal Joset, Martin Poms, Anaïs Begemann, Marie-Claude Addor, Thomas Luke Simmons, Reza Asadollahi, Andrea Klein, Markus Zweier, Rosa Baldinger, Barbara Plecko, Alessandra Baumer, Annette Hackenberg, Silvia Azzarello-Burri, Thomas Schmitt-Mechelke, Judith Kroell-Seger, Anita Rauch, Eileen Socher, Sorina Mihaela Papuc, Katharina Steindl, Lisa M. Crowther, Karoline Otten, Regula Schmid, Beatrice Oneda, Lucia Abela, Gabriele Wohlrab, Michelle Seiler, Laura Gogoll, Heinrich Sticht, Tobias Iff, Michael Papik, Bernhard Schmitt

Publikováno v: European Journal of Human Genetics, 27 (3)
European Journal of Human Genetics
European journal of human genetics, vol. 27, no. 3, pp. 408-421

Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa720540e7b52c866ebdfa91ddb6744
https://hdl.handle.net/20.500.11850/328368

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Autor: Katharina Steindl, Yoav Zehavi, Andrea Klein, Lucia Abela, Lisa M. Crowther, Sorina Mihaela Papuc, Pascal Joset, Thomas Luke Simmons, Barbara Plecko, Ronen Spiegel, Anita Rauch

Publikováno v: PLoS ONE
PLoS ONE, Vol 12, Iss 5, p e0176363 (2017)

Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d51e53d53cfda156c2fbc3222f5656c
https://pubmed.ncbi.nlm.nih.gov/28463998

Desmethoxymajusculamide C, a Cyanobacterial Depsipeptide with Potent Cytotoxicity in Both Cyclic and Ring-Opened Forms

Autor: T. Luke Simmons, Joseph Media, William H. Gerwick, Frederick A. Valeriote, Lisa M. Nogle, Susan L. Mooberry

Publikováno v: Journal of Natural Products. 72:1011-1016

Cytotoxicity-guided fractionation of the organic extract from a Fijian Lyngbya majuscula led to the discovery of desmethoxymajusculamide C (DMMC) as the active metabolite. Spectroscopic analysis including 1D and 2D NMR, MS/MS, and chemical degradatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70bc0e0a7cb8ccdea11044aa126bc906
https://doi.org/10.1021/np9001674