PMC:3905285 / 16640-17188 JSONTXT

{"project":"NEUROSES","denotations":[{"id":"T896","span":{"begin":59,"end":66},"obj":"CHEBI_16541"},{"id":"T897","span":{"begin":59,"end":66},"obj":"CHEBI_36080"},{"id":"T898","span":{"begin":166,"end":174},"obj":"CHEBI_36080"},{"id":"T899","span":{"begin":108,"end":115},"obj":"CHEBI_30313"},{"id":"T900","span":{"begin":330,"end":336},"obj":"PATO_0000461"},{"id":"T901","span":{"begin":477,"end":483},"obj":"PATO_0000461"}],"text":"Immunoblotting\nA LIPT1 antibody failed to detect the LIPT1 protein in patient fibroblasts (Figure 1A). Anti-lipoate antibody failed to detect the expected lipoylated proteins of ketoacid dehydrogenases (PDHc, α-KGDHc and BCKDHc) in the patient fibroblasts as well as in fibroblasts of another patient with NFU1 mutations, whereas normal bands were seen in patient fibroblasts with PDHA1 mutations and in control (Figure 1B). By contrast anti PDH E1-α (Abcam) antibody detected normal bands in the LIPT1-mutated patient fibroblasts (data not shown)."}