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Editorial
. 2024 Aug 20:11:1464672.
doi: 10.3389/fmed.2024.1464672. eCollection 2024.

A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms

Victoria I Bunik  1   2   3
Affiliations
Editorial

A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms

Victoria I Bunik. Front Med (Lausanne). .
No abstract available

Keywords: Charcot-Marie-Tooth neuropathy; deep mutational scanning; disease phenotype; gene and protein function; genotype-phenotype relationship; next generation sequencing; pathogenic amino acid substitutions; pyruvate dehydrogenase.

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Conflict of interest statement

The author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
Relationship between the disease causing genes and phenotypes. (A) In general, defects in different genes may converge to the same symptoms, with multiple disease phenotypes potentially observed at even the same defect of one gene. (B) Illustration of the relationship in (A) by specific case of congenital lactic acidosis and its phenotypes caused by impairments of the pyruvate dehydrogenase multienzyme complex due to defective genes PDHA and PDHX, encoding for the α-subunit of the pyruvate dehydrogenase and protein X, correspondingly. See text for further explanations.
See this image and copyright information in PMC

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