[HTML][HTML] Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1β subunit
Z Han, L Zhong, A Srivastava, PW Stacpoole - Journal of biological …, 2008 - ASBMB
Congenital deficiencies of the human pyruvate dehydrogenase (PDH) complex are
considered to be due to loss of function mutations in one of the component enzymes. Here
we describe a case of PDH deficiency associated with the PDH E1β subunit (PDHB) gene.
The clinical phenotype of the patient was consistent with reported cases of PDH deficiency.
Cultured skin fibroblasts demonstrated a 55% reduction in PDH activity and markedly
decreased immunoreactivity for PDHB protein, compared with healthy controls. Surprisingly …
considered to be due to loss of function mutations in one of the component enzymes. Here
we describe a case of PDH deficiency associated with the PDH E1β subunit (PDHB) gene.
The clinical phenotype of the patient was consistent with reported cases of PDH deficiency.
Cultured skin fibroblasts demonstrated a 55% reduction in PDH activity and markedly
decreased immunoreactivity for PDHB protein, compared with healthy controls. Surprisingly …