نتایج جستجو برای: mitochondrial disorder

تعداد نتایج: 719698  

Journal: :Cell metabolism 2011
Elena J Tucker Steven G Hershman Caroline Köhrer Casey A Belcher-Timme Jinal Patel Olga A Goldberger John Christodoulou Jonathon M Silberstein Matthew McKenzie Michael T Ryan Alison G Compton Jacob D Jaffe Steven A Carr Sarah E Calvo Uttam L RajBhandary David R Thorburn Vamsi K Mootha

The metazoan mitochondrial translation machinery is unusual in having a single tRNA(Met) that fulfills the dual role of the initiator and elongator tRNA(Met). A portion of the Met-tRNA(Met) pool is formylated by mitochondrial methionyl-tRNA formyltransferase (MTFMT) to generate N-formylmethionine-tRNA(Met) (fMet-tRNA(met)), which is used for translation initiation; however, the requirement of f...

2013
Andrew M. Schaefer Mark Walker Douglass M. Turnbull Robert W. Taylor

Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature...

2013
Morten Scheibye-Knudsen Karsten Scheibye-Alsing Chandrika Canugovi Deborah L. Croteau Vilhelm A. Bohr

The inherent complex and pleiotropic phenotype of mitochondrial diseases poses a significant diagnostic challenge for clinicians as well as an analytical barrier for scientists. To overcome these obstacles we compiled a novel database, www.mitodb.com, containing the clinical features of primary mitochondrial diseases. Based on this we developed a number of qualitative and quantitative measures,...

2012
David Protter Charmaine Lang Antony A. Cooper

Parkinson's Disease (PD) is a complex, chronic, progressive, and debilitating neurodegenerative disorder. Neither a cure nor effective long-term therapy exist and the lack of knowledge of the molecular mechanisms responsible for PD development is a major impediment to therapeutic advances. The protein αSynuclein is a central component in PD pathogenesis yet its cellular targets and mechanism of...

2012
Mauro Scarpelli Francesca Zappini Massimiliano Filosto Anna Russignan Paola Tonin Giuliano Tomelleri

Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of "pure" mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetical...

2015
Helena Kyunghee Kim Wenjun Chen Ana Cristina Andreazza

Mitochondrial dysfunction and activation of the inflammatory system are two of the most consistently reported findings in bipolar disorder (BD). More specifically, altered levels of inflammatory cytokines and decreased levels of mitochondrial complex I subunits have been found in the brain and periphery of patients with BD, which could lead to increased production of mitochondrial reactive oxyg...

2003
Patrick F. Chinnery

© 2003 Blackwell Science Ltd nalling and apoptosis (programmed cell death), and they have a crucial role in metabolism. Many metabolic enzyme systems are contained within mitochondria, including components of tricarboxylic acid (Krebs) cycle enzymes, and the fatty acid β-oxidation pathway. However, the term ‘mitochondrial disorder’ usually refers to a primary abnormality of the mitochondrial re...

2013
YU DING BOHOU XIA JINFANG YU JIANHANG LENG JINYU HUANG

Essential hypertension (EH) is a frequent, chronic, age-related disorder, which remains a major modifiable risk factor for cardiovascular disease despite important advances in our understanding of its pathophysiology. Previous studies have noted a consistent maternal effect on blood pressure (BP). Consequently, mutations in mitochondrial DNA (mtDNA) have become an additional target of investiga...

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