A de novo heterozygous variant in the catalytic subunit of mitochondrial F1FO-ATPase has been recently discovered by Ganetzky et al. to be the main cause of an autosomal dominant syndrome of hypermetabolism associated with defective ATP production. We describe how the ‘rotor free-wheeling’ causes this F1FO-ATPase dysfunction in primary congenital hypothyroidism.
Nesci S., Romeo G. (2023). ‘Rotor free-wheeling’ in impaired F1FO-ATPase induces congenital hypermetabolism. TRENDS IN ENDOCRINOLOGY AND METABOLISM, 34(2), 63-65 [10.1016/j.tem.2022.12.002].
‘Rotor free-wheeling’ in impaired F1FO-ATPase induces congenital hypermetabolism
Nesci S.
Primo
;Romeo G.Ultimo
2023
Abstract
A de novo heterozygous variant in the catalytic subunit of mitochondrial F1FO-ATPase has been recently discovered by Ganetzky et al. to be the main cause of an autosomal dominant syndrome of hypermetabolism associated with defective ATP production. We describe how the ‘rotor free-wheeling’ causes this F1FO-ATPase dysfunction in primary congenital hypothyroidism.File in questo prodotto:
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Open Access dal 01/03/2024
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