CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy.
Journal Information
Full Title: Mol Genet Metab Rep
Abbreviation: Mol Genet Metab Rep
Country: Unknown
Publisher: Unknown
Language: N/A
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Subject Category: Genetics & Heredity
Available in Europe PMC: Yes
Available in PMC: Yes
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"as the pathomechanisms of the disease remain unclear and the current treatment does not halt disease progression we hope that our model will facilitate more detailed studies on pathophysiology and help to develop new therapeutic alternatives2 additional materials and methods can be found in supplementary data 2 1 we collected skin biopsies from two non-related voluntary female patients (aged 18 and 30)."
"Declaration of Competing Interest The authors declare no conflict of interest."
"Funding The work was funded by 10.13039/501100002341Academy of Finland (Grant 308481), Foundation for Paediatric Research, Sigrid Juselius Foundation, 10.13039/501100007417Paulo Foundation, Mary & Georg C. Ehrnrooth Foundation and 10.13039/501100003125Finnish Cultural Foundation. FIMM metabolomics unit was supported by HiLIFE and 10.13039/501100013840Biocenter Finland."
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Last Updated: Aug 05, 2025