Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

por Chen, Alyssa, Ro, Hannah, Mundra, Venkat Ram Rakesh, Joseph, Kelly, Brenner, Dennis, Carpenter, Thomas O., Rizk, Dana V., Bergwitz, Clemens
Publicado 2019

Reduction of nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43–related neurodegeneration

por Tejwani, Leon, Jung, Youngseob, Kokubu, Hiroshi, Sowmithra, Sowmithra, Ni, Luhan, Lee, Changwoo, Sanders, Benjamin, Lee, Paul J., Xiang, Yangfei, Luttik, Kimberly, Soriano, Armand, Yoon, Jennifer, Park, Junhyun, Ro, Hannah H., Ju, Hyoungseok, Liao, Clara, Tieze, Sofia Massaro, Rigo, Frank, Jafar-Nejad, Paymaan, Lim, Janghoo
Publicado 2023