A cell-autonomous mechanism regulates BCAA catabolism in white adipocytes and systemic metabolic balance

por Aguillard, Ashley M., Tzeng, Joyce, Ferrer, Ismael, Tam, Bjorn T., Lorenzo, Damaris N.
Publicado 2023

Ankyrin-B is a PI3P effector that promotes polarized α5β1-integrin recycling via recruiting RabGAP1L to early endosomes

por Qu, Fangfei, Lorenzo, Damaris N, King, Samantha J, Brooks, Rebecca, Bear, James E, Bennett, Vann
Publicado 2016

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila

por Lorenzo, Damaris N., Li, Min-gang, Mische, Sarah E., Armbrust, Karen R., Ranum, Laura P. W., Hays, Thomas S.
Publicado 2010

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity

por Yang, Rui, Walder-Christensen, Kathryn K., Kim, Namsoo, Wu, Danwei, Lorenzo, Damaris N., Badea, Alexandra, Jiang, Yong-Hui, Yin, Henry H., Wetsel, William C., Bennett, Vann
Publicado 2019

Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A

por Creighton, Blake A, Afriyie, Simone, Ajit, Deepa, Casingal, Cristine R, Voos, Kayleigh M, Reger, Joan, Burch, April M, Dyne, Eric, Bay, Julia, Huang, Jeffrey K, Anton, ES, Fu, Meng-Meng, Lorenzo, Damaris N
Publicado 2021

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

por Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Publicado 2021