Global ETD Search

1	A Gain of Function Variant of the Mitochondrial Matrix Protease SPG7 Is Associated with Increased Risk of Coronary Artery Disease Almontashiri, Naif 19 March 2012 (has links) Genome-wide association studies (GWAS) have identified up to 30 loci that associate with increased risk of coronary artery disease or myocardial infarction. Here, I tested the function of one locus that changed the amino acid sequence of a mitochondrial matrix protease called paraplegin (SPG7) that performs critical quality assurance functions. Loss-of-function mutations in this protease are associated with hereditary spastic paraplegia. Here, I show that this variant that changes an arginine to a glutamine at position 688 within the protease domain is a gain-of-function. Cells bearing this variant have increased mitochondrial fusion and number, produce higher levels of reactive oxygen species and have increased cellular proliferation. Importantly, when expressed in yeast, the Q688 variant of SPG7 rescues the growth arrest caused by a protease-deficient mutation in AFG3L2. My study identifies a novel functional variant of SPG7 and highlights the need to go beyond the GWAS paradigm. CAD SPG7 ROS Cell proliferation
2	A Gain of Function Variant of the Mitochondrial Matrix Protease SPG7 Is Associated with Increased Risk of Coronary Artery Disease Almontashiri, Naif 19 March 2012 (has links) Genome-wide association studies (GWAS) have identified up to 30 loci that associate with increased risk of coronary artery disease or myocardial infarction. Here, I tested the function of one locus that changed the amino acid sequence of a mitochondrial matrix protease called paraplegin (SPG7) that performs critical quality assurance functions. Loss-of-function mutations in this protease are associated with hereditary spastic paraplegia. Here, I show that this variant that changes an arginine to a glutamine at position 688 within the protease domain is a gain-of-function. Cells bearing this variant have increased mitochondrial fusion and number, produce higher levels of reactive oxygen species and have increased cellular proliferation. Importantly, when expressed in yeast, the Q688 variant of SPG7 rescues the growth arrest caused by a protease-deficient mutation in AFG3L2. My study identifies a novel functional variant of SPG7 and highlights the need to go beyond the GWAS paradigm. CAD SPG7 ROS Cell proliferation
3	A Gain of Function Variant of the Mitochondrial Matrix Protease SPG7 Is Associated with Increased Risk of Coronary Artery Disease Almontashiri, Naif January 2012 (has links) Genome-wide association studies (GWAS) have identified up to 30 loci that associate with increased risk of coronary artery disease or myocardial infarction. Here, I tested the function of one locus that changed the amino acid sequence of a mitochondrial matrix protease called paraplegin (SPG7) that performs critical quality assurance functions. Loss-of-function mutations in this protease are associated with hereditary spastic paraplegia. Here, I show that this variant that changes an arginine to a glutamine at position 688 within the protease domain is a gain-of-function. Cells bearing this variant have increased mitochondrial fusion and number, produce higher levels of reactive oxygen species and have increased cellular proliferation. Importantly, when expressed in yeast, the Q688 variant of SPG7 rescues the growth arrest caused by a protease-deficient mutation in AFG3L2. My study identifies a novel functional variant of SPG7 and highlights the need to go beyond the GWAS paradigm. CAD SPG7 ROS Cell proliferation
4	Zur molekularen und funktionellen Charakterisierung von Mutationen in den SPG4- und SPG7- Genen / Molecular and functional characterization of mutations in SPG4 and SPG7 gene Shoukier, Moneef 28 February 2011 (has links) No description available. 000 Allgemeines, Wissenschaft Medicine Die hereditären spastischen Paraplegien Gene SPG4 SPG7 Mutationen Hereditary spastic paraplegias genes SPG4 SPG7 Mutations 44 Medizin MED 301 Humangenetik

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