Localization of delivered AGAT and GAMT in CT1 mutant (<i>SLC6A8</i>

Localization of delivered AGAT and GAMT in CT1 mutant (<i>SLC6A8</i>

<p><sup><b><i>Δ</i></b></sup><sup><b><i>ex10-11/y</i></b></sup><b>) fibroblasts.</b> IF of CT1 loss-of-function patient fibroblasts stably expressing AGAT + GAMT and empty vector infected controls imaged at 63x...

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Bibliographic Details
Main Author: Chloe Wells (17231887) (author)
Other Authors: Jon Sorgenfrei (21273708) (author), Sadie L. Johnson (21273711) (author), Devin Albertson (21273714) (author), Jared Rutter (2128906) (author), Steven Andrew Baker (10150952) (author)
Published: 2025
Subjects:
Biochemistry
Medicine
Cell Biology
Genetics
Molecular Biology
Mental Health
target cell types
natural cellular compartment
highly energetic tissues
critical metabolite used
affected individuals suffer
creatine uptake relies
creatine transporter 1
healthy control fibroblasts
endogenous creatine synthesis
div >< p
intracellular creatine concentrations
intracellular synthesis
transport creatine
primary fibroblasts
patient fibroblasts
intracellular concentration
slc6a8 </
selectively expressed
protein product
proper targeting
phenotypes referred
linked gene
like behaviors
intellectual disability
hek293t cells
genetic defects
gene therapy
gatm </
function mutations
far exceeding
effective therapies
common set
common form
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