نتایج جستجو برای: mitochondrial genes

تعداد نتایج: 545751  

2012
Qiang Lin Peng Cui Feng Ding Songnian Hu Jun Yu

The nucleotide composition of the light (L-) and heavy (H-) strands of animal mitochondrial genomes is known to exhibit strand-biased compositional asymmetry (SCA). One of the possibilities is the existence of a replication-associated mutational pressure (RMP) that may introduce characteristic nucleotide changes among mitochondrial genomes of different animal lineages. Here, we discuss the infl...

2017
Nicoletta Plotegher Michael R. Duchen

Parkinson's disease (PD) is the most common motor neurodegenerative disorder. In most cases the cause of the disease is unknown, while in about 10% of subjects, it is associated with mutations in a number of different genes. Several different mutations in 15 genes have been identified as causing familial forms of the disease, while many others have been identified as risk factors. A striking nu...

2013
Amanda S. Bess Maxwell C.K. Leung Ian T. Ryde John P. Rooney David E. Hinton Joel N. Meyer

We recently found that genes involved in mitochondrial dynamics and autophagy are required for removal of UVC-induced mitochondrial DNA damage. However, drp-1 and pink-1, unlike the autophagy and fusion genes tested, were not necessary for larval development after exposure. We hypothesized that increased fusion resulting from mutations in these genes facilitated recovery of mitochondrial functi...

2016
Masakazu Kohda Yoshimi Tokuzawa Yoshihito Kishita Hiromi Nyuzuki Yohsuke Moriyama Yosuke Mizuno Tomoko Hirata Yukiko Yatsuka Yzumi Yamashita-Sugahara Yutaka Nakachi Hidemasa Kato Akihiko Okuda Shunsuke Tamaru Nurun Nahar Borna Kengo Banshoya Toshiro Aigaki Yukiko Sato-Miyata Kohei Ohnuma Tsutomu Suzuki Asuteka Nagao Hazuki Maehata Fumihiko Matsuda Koichiro Higasa Masao Nagasaki Jun Yasuda Masayuki Yamamoto Takuya Fushimi Masaru Shimura Keiko Kaiho-Ichimoto Hiroko Harashima Taro Yamazaki Masato Mori Kei Murayama Akira Ohtake Yasushi Okazaki Gregory S. Barsh

Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. Mo...

Journal: :The Journal of molecular diagnostics : JMD 2013
Shale Dames Lan-Szu Chou Ye Xiao Tyler Wayman Jennifer Stocks Marc Singleton Karen Eilbeck Rong Mao

Sanger sequencing of multigenic disorders can be technically challenging, time consuming, and prohibitively expensive. High-throughput next-generation sequencing (NGS) can provide a cost-effective method for sequencing targeted genes associated with multigenic disorders. We have developed a NGS clinical targeted gene assay for the mitochondrial genome and for 108 selected nuclear genes associat...

Journal: :Diabetes 2005
Iwona Bogacka Hui Xie George A Bray Steven R Smith

Thiazolidenediones such as pioglitazone improve insulin sensitivity in diabetic patients by several mechanisms, including increased uptake and metabolism of free fatty acids in adipose tissue. The purpose of the present study was to determine the effect of pioglitazone on mitochondrial biogenesis and expression of genes involved in fatty acid oxidation in subcutaneous fat. Patients with type 2 ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2000
E M Marcotte I Xenarios A M van Der Bliek D Eisenberg

We introduce a computational method for identifying subcellular locations of proteins from the phylogenetic distribution of the homologs of organellar proteins. This method is based on the observation that proteins localized to a given organelle by experiments tend to share a characteristic phylogenetic distribution of their homologs-a phylogenetic profile. Therefore any other protein can be lo...

Journal: :The European respiratory journal 2021

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, age-related interstitial lung disease. Incidence of IPF in the USA ranges between 14 and 63 per 100 000 people [1]. The average survival rate from time diagnosis 3–5 years. associated with several genetic environmental factors. Genes risk for developing generally fall into two categories: epithelial cell genes ( e.g. MUC5B , DSP SFT...

2017
Charlotte L Alston Mariana C Rocha Nichola Z Lax Doug M Turnbull Robert W Taylor

Mitochondria are double-membrane-bound organelles that are present in all nucleated eukaryotic cells and are responsible for the production of cellular energy in the form of ATP. Mitochondrial function is under dual genetic control - the 16.6-kb mitochondrial genome, with only 37 genes, and the nuclear genome, which encodes the remaining ∼1300 proteins of the mitoproteome. Mitochondrial dysfunc...

Journal: :Canadian Journal of Neurological Sciences 2022

Background: MT-TA (OMIM 590000), one of 22 mitochondrial transfer-RNA (mt-tRNA) genes, encodes the mt-tRNA for alanine. Pathogenic variants in genes affect translation respiratory chain complexes I, III, and IV; which leads to dysfunction a clinically variable phenotype. pathogenic have been described only seven patients, all whom had isolated myopathy Methods: Case report. Results: Our patient...

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