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Communications Biology|January 22, 2020
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individualYeomin Yun, Sung-Ah Hong, Ka-Kyung Kim, et al.
Biorxiv : the Preprint Server for Biology|May 13, 2026
Convergent effects of neurodevelopmental disorder-associated variants at mitochondriaMaxine I Robinette, Jada B Gundy, Xinyan Leng, et al.
Neurobiology of Disease|December 28, 2020
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron diseaseNadine Bakkar, Alexander Starr, Benjamin E Rabichow, et al.
Cell Reports|April 14, 2021
Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesisNisha Raj, Zachary T McEachin, William Harousseau, et al.
Biorxiv : the Preprint Server for Biology|February 7, 2023
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletionRyan H Purcell, Esra Sefik, Erica Werner, et al.
Human Molecular Genetics|July 2, 2017
The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in miceJennifer Rha, Stephanie K Jones, Jonathan Fidler, et al.
Science Advances|August 16, 2023
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletionRyan H Purcell, Esra Sefik, Erica Werner, et al.
Cell Reports|May 7, 2020
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In VivoTiffany W Todd, Zachary T McEachin, Jeannie Chew, et al.
Frontiers in Neuroscience|March 6, 2023
Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neuronsHenriette Haukedal, Giulia I Corsi, Veerendra P Gadekar, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 2011
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humansChanghui Pak, Masoud Garshasbi, Kimia Kahrizi, et al.
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