Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Autor: Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

Publikováno v: The EMBO journal. 41(17)

The Arf GTPase family is involved in a wide range of cellular regulation including membrane trafficking and organelle-structure assembly. Here, we have generated a proximity interaction network for the Arf family using the miniTurboID approach combin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff547e2882f1b7c7d74775ebe9e7b50
https://pubmed.ncbi.nlm.nih.gov/35844135

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Autor: Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten

Publikováno v: CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC

Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef92ee7a5ecfb1bc070dbd1d6f217fa
https://hdl.handle.net/1887/3213006

Crystal structure of the human phospholipase D1 catalytic domain provides insight into activation by PI(4,5)P 2 and RhoA

Autor: Christian M. Salazar, Forrest Z. Bowling, Michael V. Airola, Mike Frohman

Publikováno v: The FASEB Journal. 34:1-1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4aadc82afa357e1d3a5b4635fe774921
https://doi.org/10.1096/fasebj.2020.34.s1.03952