One could hypothesize that BT474 might simply harbor a defect in a gene whose product plays a role in autophagy, but other cytotoxic treatment do induce autophagic response in BT474 (data not shown).
To better examine whether que mutants harbor a defect in CNS function as opposed to a defect in muscle relaxation, we analyzed fictive locomotor output from the spinal cord by performing extracellular peripheral nerve recordings.
Since this protein is ubiquitously expressed, it is logical that every tumor type harboring an APM defect was recognized by this CTL [ 19].
This is in keeping with recent results [38] [39] [40], indicating reduced IGF-1 serum levels in mice harboring a DNA repair defect and showing symptoms of accelerated aging.
However, pharmacologic inhibition of MPT by cyclosporine A attenuates cardiomyopathy and mitochondrial genomic mutagenesis in mice harboring a cardiac specific defect in mitochondrial DNA proofreading [ 12].
Except these uncommon cases, fertility remains an important issue for 5α-R2 deficient patients, notably those harboring a severe enzymatic defect that precludes spontaneous parenthood and sperm recovery in the ejaculate (i.e. azoospermic patients).
Mice heterozygous for a mutation in Baf155 − /+ show defects in brain organization [ 25], whereas Baf155 −/− homozygous mutant mice harboring a transgene expressing BAF155/SMARCC1 show a defect in blood vessel formation [ 26].
In the prospect of a clinical trial, the results of this study may allow prediction of in vivo response in patients with PDHC deficiency harboring a wide spectrum of molecular defects.
7 In the present study, we investigated the efficacy of phenylbutyrate in PDHC-deficient cells harboring a wide spectrum of genetic defects and we correlated genotypes with drug response.
As shown in Fig. 1a with drop tests, ectopic expression in S. cerevisiae of E. coli Rho factor harboring a Nuclear Localization Signal (Rho-NLS) at its C-terminus leads to a growth defect phenotype.
In addition, weeble mutant mice harboring a null mutation of the INPP4A gene exhibit massive neuronal cell death leading to neurological defects.
