Mutations and controls were crossed to a motor neuron driver (D42-GAL4, UAS-MitoGFP ) to label neuronal mitochondria.
Mutations and controls were crossed to a motor neuron (MN) driver (D42-GAL4, UAS-mitoGFP ) to label neuronal mitochondria.
Figure 1A shows Western blot analysis of total muscle homogenate (CAV3, RyR1, DHPR) and of the total sarcoplasmic reticulum (SR) fraction (SERCA2, calsequestrin) obtained from muscle biopsy fragments of the patients harboring CAV3 mutations and controls.
Treatment with ambroxol also reduced the rate of dihydroethidium oxidation in Gaucher disease, Parkinson's disease with GBA mutation and control fibroblasts.
Conventional and real-time RT-PCRs were performed on patient blood-derived cDNA using primers spanning the exon 5 6 junction to compare AIP expression between patients carrying the mutation and control individuals.
To characterize possible effects of LMNA mutations on lipid profile, we set out to apply global serum lipidomics using Ultra Performance Liquid Chromatography coupled to mass spectrometry in the same LMNA carriers, DCM patients without LMNA mutation and controls.
Positive (SW480 cell line) and negative controls (Human Placental DNA) for the mutation and controls for carryover DNA contamination were included in every experiment.
The non-energy linked activity of NNT was evaluated in mitochondria-enriched fractions from lymphocytes obtained from a 21 y old patient (carrying a homozygous F215S NNT mutation), his parents (heterozygous for this mutation) and controls.
Human skin fibroblasts established from skin biopsies taken from PD patients with G2019S LRRK2 mutation and controls (Supplementary Material, Table S2), with informed consent and ethical approval, were grown under standard conditions (58).
We first assessed whether there was significant genetic variation among all RNAi knockdown genotypes and their control, crossed to the same driver, and among all Mi{ET1} mutations and the control line (Supplementary Table 7).
