Citations 3
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, Magdalena , Callens, Tom, Chen, Yunjia , Gomes, Alicia , Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim, Armstrong, Linlea , Bosanko, Katherine A. , Babovic‐Vuksanovic, Dusica , Baker, Laura, Basel, Donald , Bengala, Mario, Chambers, Chelsea , Clarkson, L. Kate, Clementi, Maurizio , Cortés, Fanny, Cunningham, Mitch , D’Agostino, Daniela , Delatycki, Martin B. , Digilio, M. Cristina , Dosa, Laura, Esposito, Silvia , Freckmann, Mary‐Louise , Fauth, Christine , Giugliano, Teresa , Giustini, Sandra , Goetsch, Allison L. , Goldberg, Yael , Greenwood, Robert , Griffis, Cristin, Gripp, Karen W. , Gupta, Punita , Haan, Eric , Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J. , Hudgins, Louanne , Janssens, Sandra , Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina , Korf, Bruce R. , Lewis, Andrea M. , Liebelt, Jan, Lichty, Angie, Listernick, Robert , Lyons, Michael J. , Maystadt, Isabelle , Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley , Melis, Daniela , Mendelsohn, Nancy J., Nowaczyk, Małgorzata J.M. , Ortenberg, June, Panzer, Karin, Pappas, John , Pierpont, Mary Ella , Pinna, Valentina, Pivnick, Enikö K., Pond, Dinel , Powell, Cynthia M. , Rogers, Caleb , Ruhrman‐Shahar, Noa , Rutledge, S. Lane , Saletti, Veronica , Sandaradura, Sarah A. , Schatz, Ulrich A. , Schreiber, Allison, Sellars, Elizabeth A. , Siqveland, Elizabeth, Slopis, John M. , Smith, Rosemarie, Spalice, Alberto , Stockton, David W., Streff, Haley , Theos, Amy , Tran, Grace , Trapane, Pamela , Trevisson, Eva , Ullrich, Nicole J. , Ende, Jenneke van den , Wallace, Stephanie E , Weaver, David D. , Yohay, Kaleb , Zackai, Elaine H. , Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen , Eoli, Marica , Wimmer, Katharina , Luca, Alessandro De , Messiaen, Ludwine , Trevisson, Eva , Wangler, Michael F , Claes, Kathleen B M , Wimmer, Katharina , De Luca, Alessandro , Messiaen, Ludwine M , Gupta, Punita , Bennett, James T , Fox, Stephanie, Hernández-Chico, Concepción, Piluso, Giulio , Santoro, Claudia , Scott, Daryl A , Sheffer, Ruth N. , Tomlinson, Gail Elizabeth , Vergano, Samantha A. Schrier , Martín, Yolanda , Legius, Eric
Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Rojnueangnit, Kitiwan , Xie, Jing , Gomes, Alicia , Sharp, Angela, Callens, Tom, Chen, Yunjia , Liu, Ying , Abbott, Mary‐Alice , Atkin, Joan, Babovic‐Vuksanovic, Dusica , Barnett, Christopher , Crenshaw, Melissa , Bartholomew, Dennis W., Basel, Lina, Bellus, Gary A. , Ben‐Shachar, Shay , Bialer, Martin G., Bick, David , Blumberg, Bruce , Cortés, Fanny, David, Karen L. , Destrèe, Anne , Rodríguez, Anna Duat , Earl, Dawn , Eswara, Marthanda, Ezquieta, Begoña, Frayling, Ian M. , Frydman, Moshe , Gardner, Kathy, Gripp, Karen W. , Hernández‐Chico, Concepción, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra , Keena, Beth, Llano‐Rivas, Isabel , Leppig, Kathy, McDonald, Marie , Misra, Vinod K. , Mulbury, Jennifer, Narayanan, Vinodh , Orenstein, Naama, Galvin‐Parton, Patricia , Pedro, Hélio , Pivnick, Enikö K., Powell, Cynthia M. , Randolph, Linda M., Raskin, Salmo , Rubin, Karol, Seashore, Margretta R., Schaaf, Christian P. , Schultz, Meredith, Schorry, Elizabeth K. , Schnur, Rhonda E. , Siqveland, Elizabeth, Tkachuk, Amanda , Tonsgard, James H. , Upadhyaya, Meena , Verma, Ishwar C. , Wallace, Stephanie E , Williams, Charles A. , Zackai, Elaine H. , Zonana, Jonathan, Lázaro, Conxi , Claes, Kathleen , Korf, Bruce R. , Messiaen, Ludwine , Babovic-Vuksanovic, Dusica, Cochran, J. Nicholas , Escobar, Luis Fernando , Hernández-Chico, Concepción, Rosell, Jordi , Scheuerle, Angela E. , Martín, Yolanda , Legius, Eric , Claes, Kathleen B M , Lazaro, Conxi
Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063
α 2A adrenergic receptor promotes amyloidogenesis through disrupting APP-SorLA interaction
Peng, Yin, Che, Pulin , Gannon, Mary , Liu, Yin , Li, Ling , Bu, Guojun , Groen, Thomas van , Jiao, Kai , Wang, Qin , Chen, Yunjia , Peng, Yin, Bu, Guojun
Proceedings of the National Academy of Sciences | November 20, 2014 | Volume: 111 | Issue: 48 | Pages: 17296-17301
Significance Endocytic sorting of amyloid precursor protein (APP) governed by the vacuolar protein sorting (Vps10) family of receptors plays a decisive role in controlling the outcome of APP proteolytic processing and the generation of amyloid β (Aβ) peptides, the key pathogenic factor of Alzheimer's disease (AD). This study provides the first evidence to our knowledge that a G protein-coupled receptor, namely, the α 2A adrenergic receptor, modulates APP endocytic sorting and promotes Aβ generation through disrupting APP interaction with a Vps10 family protein, sorting-related receptor with A repeat. Significantly, blockade of α 2A AR by a clinical antagonist reduces AD-related pathology and ameliorates cognitive deficits in an AD transgenic model, suggesting repurposing clinical α 2 AR antagonists as a new direction for AD treatment.