Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

• Main Authors: Gonzalo Perez-Siles (Author), Anthony Cutrupi (Author), Melina Ellis (Author), Jakob Kuriakose (Author), Sharon La Fontaine (Author), Di Mao (Author), Motonari Uesugi (Author), Reinaldo I. Takata (Author), Carlos E. Speck-Martins (Author), Garth Nicholson (Author), Marina L. Kennerson (Author), Annemieke Aartsma-Rus (Author), James Dowling (Author), Maaike van Putten (Author)
• Format: Book
• Published: The Company of Biologists, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generated induced pluripotent stem cell (iPSC)-derived mo...