Pharmacological chaperones restore proteostasis of epilepsy-associated GABA(A) receptor variants

por Wang, Ya-Juan, Seibert, Hailey, Ahn, Lucie Y., Schaffer, Ashleigh E., Mu, Ting-Wei
Publicado 2023

An epilepsy‐associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

por Ahn, Lucie Y., Coatti, Giuliana C., Liu, Jingyi, Gumus, Evren, Schaffer, Ashleigh E., Miranda, Helen C.
Publicado 2020

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)

por Abdel-Salam, Ghada MH, Schaffer, Ashleigh E, Zaki, Maha S, Dixon-Salazar, Tracy, Mostafa, Inas S, Afifi, Hanan H, Gleeson, Joseph G
Publicado 2012

An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development

por Baek, Seung Tae, Copeland, Brett, Yun, Eun-Jin, Kwon, Seok-Kyu, Guemez-Gamboa, Alicia, Schaffer, Ashleigh E., Kim, Sangwoo, Kang, Hoon-Chul, Song, Saera, Mathern, Gary W., Gleeson, Joseph G.
Publicado 2015

Nkx6.1 Controls a Gene Regulatory Network Required for Establishing and Maintaining Pancreatic Beta Cell Identity

por Schaffer, Ashleigh E., Taylor, Brandon L., Benthuysen, Jacqueline R., Liu, Jingxuan, Thorel, Fabrizio, Yuan, Weiping, Jiao, Yang, Kaestner, Klaus H., Herrera, Pedro L., Magnuson, Mark A., May, Catherine Lee, Sander, Maike
Publicado 2013

Adaptation to chronic ER stress enforces pancreatic β-cell plasticity

por Chen, Chien-Wen, Guan, Bo-Jhih, Alzahrani, Mohammed R., Gao, Zhaofeng, Gao, Long, Bracey, Syrena, Wu, Jing, Mbow, Cheikh A., Jobava, Raul, Haataja, Leena, Zalavadia, Ajay H., Schaffer, Ashleigh E., Lee, Hugo, LaFramboise, Thomas, Bederman, Ilya, Arvan, Peter, Mathews, Clayton E., Gerling, Ivan C., Kaestner, Klaus H., Tirosh, Boaz, Engin, Feyza, Hatzoglou, Maria
Publicado 2022

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

por Werren, Elizabeth, LaForce, Geneva, Srivastava, Anshika, Perillo, Delia, Johnson, Katherine, Berger, Brandon, Regan, Samantha, Pfennig, Christian, Baris, Safa, de Munnik, Sonja, Pfundt, Rolph, Hebbar, Malavika, Jimenez Heredia, Raul, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, Eloise, Louie, Raymond, Lebel, Robert, Le, Thuy-Linh, Amiel, Jeanne, Gordon, Christopher, Boztug, Kaan, Girisha, Katta, Shukla, Anju, Bielas, Stephanie, Schaffer, Ashleigh
Publicado 2023

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

por Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.
Publicado 2015

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

por Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.
Publicado 2018

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

por Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.
Publicado 2017