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The accumulation of propionate and the blockade of its metabolism have synergistically detrimental effects on various organs, with neurological dysfunctions being one of the most common complications in PA patients ( In this minireview, we summarize the current understanding of propionate sources, metabolism, and its pathological roles in neurological dysfunctions when its metabolism is impaired in PA

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Cell Discovery, 6 , Article 22

In one instance, epithelioid MPNST was documented in the context of a precursor schwannoma, arising in a patient with schwannomatosis and germline SMARCB1 (Ini1) mutation [118]

Quantification of steroidogenic acute regulatory gene expression RNA Isolation, cDNA synthesis, and real-time quantitative polymerase chain reaction The homogenate was directly suspended in TRIzol reagent, followed by the extraction of mRNA

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