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

PDF Available: No

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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)."

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"Declaration of Competing Interest The authors declare no conflict of interest."

Evidence found in paper:

"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