نتایج جستجو برای: mitochondrial deletions

تعداد نتایج: 150658  

Journal: :Neuropathology and Applied Neurobiology 2013

2012
Yasemin Gulcan Kurt Bulent Kurt Tuncer Cayci Emin Ozgur Akgul

To the Editor: We read the article by Chihara N et al. entitled “mitochondrial DNA alterations in colorectal cancer cell lines” with great interest. In this article, authors aimed to find potential roles of mtDNA alterations in colorectal cancers. In order to show mtDNA alteration, they sequenced entire mtDNA of eleven human-derived colorectal carcinoma cell lines. Many point mutations were det...

Journal: :Archives of neurology 2006
Emiliano González-Vioque Alberto Blázquez Daniel Fernández-Moreira Belén Bornstein Juan Bautista Javier Arpa Carmen Navarro Yolanda Campos Miguel A Fernández-Moreno Rafael Garesse Joaquin Arenas Miguel A Martín

BACKGROUND Both dominant and recessive mutations were reported in the gene encoding the mitochondrial (mt) DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). Phenotypes other than PEO were recently documented in patients with mutations in the POLG gene. OBJECTIVE To screen patients with mitochondrial disease and multiple mtDNA deletions in muscle for muta...

2017
Enrico Bugiardini Olivia V. Poole Andreea Manole Alan M. Pittman Alejandro Horga Iain Hargreaves Cathy E. Woodward Mary G. Sweeney Janice L. Holton Jan-Willem Taanman Gordon T. Plant Joanna Poulton Massimo Zeviani Daniele Ghezzi John Taylor Conrad Smith Carl Fratter Meena A. Kanikannan Arumugam Paramasivam Kumarasamy Thangaraj Antonella Spinazzola Ian J. Holt Henry Houlden Michael G. Hanna Robert D.S. Pitceathly

OBJECTIVE Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitochondrial disease and establish clinically meaningful genotype-phenotype correlations. METHODS RNASEH1 was analyzed in patients with (1) multiple ...

Journal: :Genetics 2009
Rey A Sia Stephanie Carrol Lidza Kalifa Christine Hochmuth Elaine A Sia

Loss of Abf2p, an abundant mitochondrial nucleoid-associated protein, results in increased mitochondrial frameshifts and direct-repeat mediated deletions but has no effect on the rate of mitochondrial point mutations. The instability of repeated sequences in this strain may be linked to the loss of mitochondrial DNA in abf2-Delta strains.

Journal: :Molecular and cellular biology 1987
D M Bedwell D J Klionsky S D Emr

The NH2 terminus of the yeast F1-ATPase beta subunit precursor directs the import of this protein into mitochondria. To define the functionally important components of this import signal, oligonucleotide-directed mutagenesis was used to introduce a series of deletion and missense mutations into the gene encoding the F1-beta subunit precursor. Among these mutations were three nonoverlapping dele...

Journal: :Bioscience reports 2002
V Pesce A Cormio F Fracasso A M S Lezza P Cantatore M N Gadaleta

Mitochondrial phenotypic alterations, mitochondrial DNA content and mitochondrial DNA deletions in a slow, Soleus, and a fast, Extensor Digitorum Longus, skeletal muscle of 3- and 15-month-old hindlimb suspended rats have been studied. Cytochrome c oxidase-negative fibers appeared after unloading in all examined animals and their percentage increased with increasing unloading time. After 14 day...

2013
Andreas Bender Paula Desplats Brian Spencer Edward Rockenstein Anthony Adame Matthias Elstner Christoph Laub Sarina Mueller Andrew O. Koob Michael Mante Emily Pham Thomas Klopstock Eliezer Masliah

Alpha-synuclein (α-Syn) accumulation/aggregation and mitochondrial dysfunction play prominent roles in the pathology of Parkinson's disease. We have previously shown that postmortem human dopaminergic neurons from PD brains accumulate high levels of mitochondrial DNA (mtDNA) deletions. We now addressed the question, whether alterations in a component of the mitochondrial import machinery--TOM40...

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