[PDF] Top 20 Syndromes associated with mitochondrial DNA depletion
Has 10000 "Syndromes associated with mitochondrial DNA depletion" found on our website. Below are the top 20 most common "Syndromes associated with mitochondrial DNA depletion".
Syndromes associated with mitochondrial DNA depletion
... a mitochondrial inner membrane protein whose function is not yet completely characterized, even though its key role in controlling mtDNA maintenance and OxPhos activities in mammals and yeast is well established ... See full document
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
... Background. Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative ... See full document
9
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy
... abnormal mitochondrial function using standard morphological methodologies, as well as spectrophotometric mea- surement of respiratory chain complexes and citrate synthase ...Total DNA was extracted from ... See full document
5
Mitochondrial DNA variants in obesity.
... performed with 35 mtDNA SNPs in the whole discovery GWAS sample of 1,158 (extremely) obese children and adolescents and 435 lean and normal weight adult ...nominally associated (Table ... See full document
9
Duplication and triplication with staggered breakpoints in human mitochondrial DNA
... not associated with homologous recom- bination of direct ...together with localized topological alter- ations in the mtDNA as small direct repeats have been associated with staggered ... See full document
8
Mitochondrial DNA common deletion is not associated with thyroid, breast and colorectal tumors in Turkish patients
... The mitochondrial common deletion was determined by two different ...product with 142 bp. In cases with the mtDNA common deletion, Mitin primers amplify a 142-bp target sequence, and Mitout primers ... See full document
4
Frontotemporal dementia and mitochondrial DNA transitions
... of mitochondrial DNA (mtDNA) in FTD, as it has been associated to ...patient with two mtDNA transitions: one already known (3316 G-to-A) and another unreported (3337 ...Additionally, ... See full document
6
Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
... disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fi broblasts and platelets of AD patients, indicating a ... See full document
6
Roles of the mitochondrial replisome in mitochondrial DNA deletion formation
... Mitochondrial DNA (mtDNA) deletions are a common cause of human mitochondrial ...the mitochondrial replisome, such as DNA polymerase gamma (Pol g) and the mtDNA helicase Twinkle, have ... See full document
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Mitochondrial DNA single nucleotide polymorphism associated with weight estimated breeding values in Nelore cattle ( Bos indicus)
... no mitochondrial tRNA cys or tRNA gly mutations were found using ...pro mitochondrial genes of the cattle har- boring ...pro mitochondrial genes, charac- teristic of ...Brazil with imported ... See full document
6
Mitochondrial genetic variants identified to be associated with BMI in adults.
... nuclear DNA (nDNA), which is relevant for the understanding of human diseases, is the heteroplasmy effect, which was originally believed to be a rare ...the mitochondrial genome has a higher mutation rate ... See full document
8
Disruption of mitochondrial DNA replication in Drosophila increases mitochondrial fast axonal transport in vivo.
... larvae with the fluorescent dye PicoGreen (Figure ...mtDNA depletion in living human cells and rat liver mitochondria ...mtDNA depletion. We measured mtDNA depletion in muscles 6/7 in ... See full document
14
The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations.
... mtDNA with diseases have been hypothesized to result from altered protein binding in this region, subsequently leading to changed mtDNA replication ...the mitochondrial single-strand DNA-binding ... See full document
7
New signalling pathways in reproductive tissues associated with mitochondrial dysfunction induced by metabolic diseases
... mitochondria, with different sizes, shapes, and abundance depending on the cell ...The mitochondrial DNA is constituted by a double strand molecule containing 37 genes encoding for 13 proteins, ... See full document
85
In vitro detection of non-canonical mitochondrial DNA conformations
... be associated with genetic instability, which can cause a several genetic human diseases such as myotonic dystrophy, Huntington disease, Friedrich ataxia or fragile X syndrome (Bacolla et ...of DNA ... See full document
70
Mitochondrial DNA phylogeography of Brazilian populations of Drosophila buzzatii
... The existence of an earlier fragmentation in Brazilian populations of D. buzzatii has been suggested by allozyme studies (Barker et al., 1985) but not by chromosomal inver- sion studies (Wasserman, 1962; Barker et al., ... See full document
11
Peripheral blood mitochondrial DNA copy number is associated with prostate cancer risk and tumor burden.
... be associated with more aggressive PCa ...the depletion of the mitochondrial genome content was also considered as a common characteristic in cancer ...of mitochondrial oxidative ... See full document
7
Replicating animal mitochondrial DNA
... mutations associated with the severe Alpers’ syndrome (Euro et ...clear mitochondrial defects, as predicted (Trifunovic et ...its mitochondrial dysfunctions, this animal model clearly ... See full document
8
Genetic characteristics of mitochondrial DNA was associated with colorectal carcinogenesis and its prognosis.
... of mitochondrial DNA has been described in colorectal cancer ...carcinogenesis, mitochondrial microsatellite instability (mtMSI) and other markers were investigated in CRCs and their precancerous ... See full document
12
Mitochondrial DNA damage associated with lipid peroxidation of the mitochondrial membrane induced by Fe2+-citrate
... analysis. Complete mtDNA hydrolysis was moni- tored by electrophoresis in agarose gels stained with ethidium bromide. Nucleosides obtained by mtDNA hydrolysis were analyzed by HPLC as de- scribed by Shigenaga et ... See full document
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