Molecular Genetics and Metabolism

Here we examine the citric acid cycle enzymes activities and amounts for Cs, Idh2/3, Ogdh, Scs, Mmut, Sdh, Fh, Mdh2 from mitochondria isolated from model mouse model for methylmalonic acid (having a Mmut mutation (p.M698K) and MMut gene knockout, called here Mut-Ko/ki) and their heterozygote littermate (controls with wt/p.M698K). We also looked at a serial enzyme which we call MCM-SDH. A description of all techniques used for these assays is included in the paper (Wongkittichote et al). Raw data from the enzyme assays is located in the excel spreadsheets attached (and labeled according to the enzyme assayed). The actual absorbance raw data as well as the labeling levels, averaging and standard deviations as well as initial graphs to calculate slope and so activity are included. Graph pad data include the protein quantification of immunoblots by measuring the amount of absorbance on a ChemiDoc™ MP Imaging System (170-8280; Bio-Rad) using Image Lab Software 5.1 by BioRad (Amountmutkoki). The enzyme calculations and graphing is also included via GraphPad as well statistics (mutenzymeactivity and Mutkokianalysis enzymeactivity).

Private sequence variants in an Australian Cattle Dog with a pathological variant in ATP13A2

Methods and materials - English version of the questionnaire

Data from questionnaire