Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Monica Jansson"'
Autor:
Ali-Reza Moslemi, Elisabeth Holme, Åsa Pérez-Bercoff, Anders Oldfors, Gittan Kollberg, Christopher Lindberg, Monica Jansson, Atle Melberg
Publikováno v:
European Journal of Human Genetics. 13:463-469
Mitochondrial myopathy in progressive external ophthalmoplegia (PEO) has been associated with POLG1 mutations. POLG1 encodes the catalytic alpha subunit of polymerase gamma and is the only polymerase known to be involved in mtDNA replication. It has
Autor:
Michel Fardeau, Patricia Blondy, Anders Oldfors, Ali-Reza Moslemi, Monica Jansson, Guillemette Fayet, Damien Sternberg, Anne Lombès
Publikováno v:
Neuromuscular Disorders. 12:484-493
Although mitochondrial DNA deletions have been shown to accumulate in cytochrome c oxidase deficient muscle fibres of ageing muscle, this has not been demonstrated for point mutations. In this study, we investigated the occurrence of mitochondrial DN
Autor:
Monica Jansson, Jan Wahlström, Niklas Darin, Anders Oldfors, Tommy Martinsson, Mårten Kyllerman
Publikováno v:
Acta Neuropathologica. 100:23-28
We have recently described an autosomal dominant hereditary inclusion body myopathy (h-IBM). Clinically it is is characterized by congenital joint contractures and slowly progressive, proximal muscle weakness and ophthalmoplegia. There is deteriorati
Autor:
Mats Gåfvels, Bhanu P. Chowdhary, Ingemar Björkhem, Monica Jansson, Terje Raudsepp, Ulla Andersson, Bengt Persson, Gösta Eggertsen, Maria Olin
Publikováno v:
Genomics. 56:184-196
Sterol 12alpha-hydroxylase (CYP8B1) is a hepatic cytochrome P-450 that controls the ratio of cholic acid over chenodeoxycholic acid in bile and thus controls the solubility of cholesterol. Both the human and the mouse CYP8B1 complementary DNA and gen
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 12(10)
Mitochondrial transcription factor A (Tfam) is required for mtDNA maintenance, and mitochondrial Tfam protein levels directly affect mtDNA copy number. Previous studies have shown significant reduction of Tfam protein levels in mitochondria together