BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution

por Padilla-López, Sergio, Langager, Deanna, Chan, Chun-Hung, Pearce, David A.
Publicado 2012

pH-dependent localization of Btn1p in the yeast model for Batten disease

por Wolfe, Devin M., Padilla-Lopez, Sergio, Vitiello, Seasson Phillips, Pearce, David A.
Publicado 2011

AGAP1-associated endolysosomal trafficking abnormalities link gene–environment interactions in neurodevelopmental disorders

por Lewis, Sara A., Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R., Kruer, Michael C.
Publicado 2023

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

por Lewis, Sara A., Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R., Kruer, Michael C.
Publicado 2023

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

por Lewis, Sara A., Bakhtiari, Somayeh, Heim, Jennifer, Cornejo, Patricia, Liu, James, Huang, Aris, Musmacker, Andrew, Jin, Sheng Chih, Bilguvar, Kaya, Padilla-Lopez, Sergio R., Kruer, Michael C.
Publicado 2021

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

por Masuho, Ikuo, Fang, Mingyan, Geng, Chunyu, Zhang, Jianguo, Jiang, Hui, Özgul, Riza Köksal, Yılmaz, Didem Yücel, Yalnızoğlu, Dilek, Yüksel, Deniz, Yarrow, Anna, Myers, Angela, Burn, Sabrina C., Crotwell, Patricia L., Padilla-Lopez, Sergio, Dursun, Ali, Martemyanov, Kirill A., Kruer, Michael C.
Publicado 2016

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

por Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
Publicado 2019