[图书][B] Characterizing the Function of Neuronal Cells Derived from Induced Pluripotent Stem Cells Made from Patients with Lowe Syndrome

J Barnes - 2022 - search.proquest.com
Lowe Syndrome (LS) is a rare, X-linked disorder that occurs in 1 in 500,000 males. It is
typically caused by loss of function mutations in the gene OCRL, which codes for an inositol …

[PDF][PDF] Endosomal Trafficking is disrupted in Neurodevelopmental Disorders

SC Romero, R Dzvurumi, A Crockett, A Lombardo… - 2021 - academia.edu
Endosomal trafficking has been implicated in several neurodevelopmental disorders
including Rett Syndrome (RTT) and Schizophrenia (SZ). Endosomal proteins have been …