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SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac Lee, Hyun Jae; Fenollar-Ferrer, Cristina; Isgrig, Kevin; Wang, Ya-Xian; Valente, Kerstin; Eide, Juleh; Honda, Keiji; Chien, Wade W.; Petralia, Ronald S.; Dong, Lijin; Friedman, Thomas B.; Bonifacino, Juan S.; Griffith, Andrew J.; Roux, Isabelle Share Save
Angiogenesis is limited by LIC1-mediated lysosomal trafficking Johnson, Dymonn; Colijn, Sarah; Richee, Jahmiera; Yano, Joseph; Burns, Margaret; Davis, Andrew E.; Pham, Van N.; Saric, Amra; Jain, Akansha; Yin, Ying; Castranova, Daniel; Melani, Mariana; Fujita, Misato; Grainger, Stephanie; Bonifacino, Juan S.; Weinstein, Brant M.; Stratman, Amber N. Share Save
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia Diarra, Salimata; Ghosh, Saikat; Ciss, Lassana; Coulibaly, Thomas; Yalcouy, Abdoulaye; Harmison, George; Diallo, Salimata; Diallo, Seybou H.; Coulibaly, Oumar; Schindler, Alice; Ciss, Cheick A. K.; Maiga, Alassane B.; Bamba, Salia; Samassekou, Oumar; Khokha, Mustafa K.; Mis, Emily K.; Lakhani, Saquib A.; Donovan, Frank X.; Jacobson, Steve; Blackstone, Craig; Guinto, Cheick O.; Landour, Guida; Bonifacino, Juan S.; Fischbeck, Kenneth H.; Grunseich, Christopher Share Save
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy Gonzalez, Carlos Dominguez; Sanderson, Leslie E.; Depace, Raffaella; Helman, Guy; Wu, Kaiyuan; Disanza, Brianna; Pizzino, Amy; Schmidt, Johanna; Muirhead, Kayla; Bonkowsky, Joshua; Taft, Ryan; Sannaa, Nouriya; Dias, Patricia; Mutlu, Mehmet Burak; Bertoli-Avella, Aida M.; Maroofian, Reza; Barakat, Tahsin Stefan; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca; Simons, Cas; Wolvetang, Ernst; Sack, Michael N.; van Ham, Tjakko; Hsiao-Sanchez, Nicole; Bonifacino, Juan S.; Vanderver, Adeline Share Save
The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia Caracci, Mario O.; Pizarro, Hector; Alarcon-Godoy, Carlos; Fuentealba, Luz M.; Farfan, Pamela; De Pace, Raffaella; Santibanez, Natacha; Cavieres, Viviana A.; Pastor, Tammy P.; Bonifacino, Juan S.; Mardones, Gonzalo A.; Marzolo, Maria-Paz Share Save
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics De Pace, Raffaella; Maroofian, Reza; Paimboeuf, Adeline; Zamani, Mina; Zaki, Maha S.; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Zeighami, Jawaher; Williamson, Chad D.; Fleming, Emily; Zhou, Dihong; Gannon, Jennifer L.; Thiffault, Isabelle; Roze, Emmanuel; Suri, Mohnish; Zifarelli, Giovanni; Bauer, Peter; Houlden, Henry; Severino, Mariasavina; Patten, Shunmoogum A.; Farrow, Emily; Bonifacino, Juan S. Share Save
Architecture of the ESCPE-1 membrane coat Lopez-Robles, Carlos; Scaramuzza, Stefano; Astorga-Simon, Elsa N.; Ishida, Morie; Williamson, Chad D.; Banos-Mateos, Soledad; Gil-Carton, David; Romero-Durana, Miguel; Vidaurrazaga, Ander; Fernandez-Recio, Juan; Rojas, Adriana L.; Bonifacino, Juan S.; Castano-Diez, Daniel; Hierro, Aitor Share Save
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Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies Chen, Xin; Dong, Thomas; Hu, Yuhui; De Pace, Raffaella; Mattera, Rafael; Eberhardt, Kathrin; Ziegler, Marvin; Pirovolakis, Terry; Sahin, Mustafa; Bonifacino, Juan S.; Ebrahimi-Fakhari, Darius; Gray, Steven J. Share Save
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