Simple Summary The molecular mechanisms of Charcot–Marie–Tooth (CMT) disease,
involving impaired vitamin metabolism and/or actions, are considered in light of the potential …

The 2-oxoglutarate dehydrogenase complex (OGDHc) is a key enzyme in the tricarboxylic
acid (TCA) cycle and represents one of the major regulators of mitochondrial metabolism …

Background The DHTKD1-encoded 2-oxoadipate dehydrogenase (OADH) oxidizes 2-
oxoadipate—a common intermediate of the lysine and tryptophan catabolism. The mostly …

Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency.
MTP deficiency is a rare autosomal recessive disorder affecting long-chain fatty acid …

Phosphonate analogs of pyruvate and 2-oxoglutarate are established specific inhibitors of
cognate 2-oxo acid dehydrogenases. The present work develops application of this class of …

Since ancient times, animal models have provided fundamental information in medical
knowledge. This also applies for discoveries in the field of inherited peripheral neuropathies …

Charcot‐Marie‐Tooth Disease (CMT) is the most common clinical genetic disease of the
peripheral nervous system. Although many studies have focused on elucidating the …

In vitro and in cell cultures, succinyl phosphonate (SP) and adipoyl phosphonate (AP)
selectively target dehydrogenases of 2-oxoglutarate (OGDH, encoded by OGDH/OGDHL) …

The present work delves into the enigmatic world of mitochondrial alpha-keto acid
dehydrogenase complexes discussing their metabolic significance, enzymatic operation …

Discussion Charcot–Marie–Tooth disease type 2Q is characterized by adolescent to
adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy …