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Mitochondrial functional protein deficiency
- ... different ways, they all lead to a shortage (deficiency) of the transporter. Without enough functional CACT protein, long-chain fatty acids cannot be transported into mitochondria. As a result, these fatty acids are not ...
- ... different ways, they all lead to a shortage (deficiency) of the protein. Without enough functional CACT protein, long-chain fatty acids cannot be transported into mitochondria. As a result, these fatty acids are not ...
- ... from being produced at all.A lack of functional OCTN2 proteins create a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy ...
- ... both, which leads to a deficiency of the functional complex in which it plays a part. This deficiency impairs the production of mitochondrial tRNAs. Without enough tRNAs, the mitochondrial synthesis of proteins involved in cellular energy production is reduced. A ...
- ... TRNT1 deficiency lead to a shortage (deficiency) of functional TRNT1 protein. ... mitochondrial protein complexes that are involved in energy production. ...
- ... tRNA.TRNT1 gene mutations lead to a shortage (deficiency) of functional TRNT1 ... called mitochondria, which are the energy-producing centers of cells, ...
- ... cytochrome c reductase) synthesis-like BCS1 BCS1-like protein BCS1_HUMAN h-BCS1 Hs.6719 mitochondrial chaperone BCS1 mitochondrial complex III ... Drose S. Superoxide generation by complex III: from mechanistic rationales to functional consequences. Biochim Biophys Acta. 2013 Nov-Dec;1827( ...
- ... seizures, and other features of succinic semialdehyde dehydrogenase deficiency.Research ... semialdehyde dehydrogenase NAD(+)-dependent succinic semialdehyde dehydrogenase ...
- ... have identified several HADHA gene mutations that cause mitochondrial trifunctional protein deficiency. These mutations reduce all three enzyme activities of ...
- ... thought to be related to the amount of functional protein remaining: severe CLPB deficiency is likely caused by a complete absence of CLPB protein, while moderate and mild CLPB deficiency result when some functional CLPB protein is produced. Researchers are unsure how reduction or ...
