Loss of PINK1 function promotes mitophagy through effects on oxidative stress and mitochondrial fission.
AuthorsDagda RK, Cherra SJ, Kulich SM, Tandon A, Park D, Chu CT,
JournalJ Biol Chem
PubMed ID19279012
'Mitochondrial dysregulation is strongly implicated in Parkinson disease. Mutations in PTEN-induced kinase 1 (PINK1) are associated with familial parkinsonism and neuropsychiatric disorders. Although overexpressed PINK1 is neuroprotective, less is known about neuronal responses to loss of PINK1 function. We found that stable knockdown of PINK1 induced mitochondrial fragmentation and autophagy ... More
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
AuthorsLib MY, Brown RM, Brown GK, Marusich MF, Capaldi RA
JournalJ Histochem Cytochem
PubMed ID12070266
Deficiency of the E1 alpha-subunit of the pyruvate dehydrogenase (PDH) complex is an X-linked inborn error of metabolism and one of the major causes of lactic acidosis in children. Although most heterozygous females manifest symptoms of the disease, it is often difficult to establish the diagnosis as results based on ... More