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Ghayoor Karimiani on Muck Rack

Ghayoor Karimiani

As seen in: Oxford University Press (OUP)
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Articles

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

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By Eberhard Karls, Biomolecular Mass Spectrometry, Proteomics Group, Ghayoor Karimiani
| Oxford University Press (OUP)
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins, and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology.
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