Results 91 to 100 of about 10,033,806 (381)

Visualizing mitochondrial FoF1-ATP synthase as the target of the immunomodulatory drug Bz-423

, 2018
Targeting the mitochondrial enzyme FoF1-ATP synthase and modulating its catalytic activities with small molecules is a promising new approach for treatment of autoimmune diseases. The immuno-modulatory compound Bz-423 is such a drug that binds to subunit
Börsch, Michael, Glick, Gary D., Starke, Ilka   +2 more
core   +1 more source

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

BMC Medical Genetics, 2018
BackgroundSince the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial diseases.
M. Plutino, A. Chaussenot, C. Rouzier, S. Ait-El-Mkadem, K. Fragaki, V. Paquis-Flucklinger, S. Bannwarth   +6 more
semanticscholar   +1 more source

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

Molecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha, Steven Kao, Veronica K. Cheung, Wendy A. Cooper, Nico van Zandwijk, John E. J. Rasko, Dannel Yeo   +6 more
wiley   +1 more source

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies

Orphanet Journal of Rare Diseases
Background The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for α-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).
Guiguan Yang, Xiaoqing Lv, Wenjing Wu, Guangyu Wang, Mengqi Yang, Yifei Feng, Chuanzhu Yan, Meirong Liu, Pengfei Lin   +8 more
doaj   +1 more source

Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy

Journal of Inborn Errors of Metabolism and Screening, 2017
Leber’s hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial disorders. It is caused by mutations in genes of the mitochondrial DNA coding for subunits of the respiratory chain and leads to severe bilateral vision loss, from which
Claudia B. Catarino MD, PhD, Thomas Klopstock MD   +1 more
doaj   +1 more source

Cytosolic redox components regulate protein homeostasis via additional localisation in the mitochondrial intermembrane space [PDF]

, 2017
Oxidative protein folding is confined to the bacterial periplasm, endoplasmic reticulum and the mitochondrial intermembrane space. Maintaining a redox balance requires the presence of reductive pathways.
Cardenas-Rodriguez, Mauricio, Tokatlidis, Konstantinos   +1 more
core   +1 more source

Biological and Clinical Relevance of microRNAs in Mitochondrial Diseases/Dysfunctions.

DNA and Cell Biology, 2019
Mitochondrial dysfunction arises from an inadequate number of mitochondria, an inability to provide necessary substrates to mitochondria, or a dysfunction in their electron transport and a denosine triphosphate synthesis machinery.
D. Sekar, Jayapriya Johnson, M. Biruntha, Ganesh Lakhmanan, D. Gurunathan, Kehinde Ross   +5 more
semanticscholar   +1 more source

Mitochondrial DNA and disease [PDF]

The Journal of Pathology, 2011
AbstractMitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS).
Robert W. Taylor, Amy K. Reeve, Laura C. Greaves, Douglass M. Turnbull   +3 more
openaire   +3 more sources

Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors

Molecular Oncology, EarlyView.
Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi, Janelle‐Cheri Millen, Romela Irene Ramos, Jennifer A. Linehan, Timothy G. Wilson, Dave S. B. Hoon, Matias A. Bustos   +6 more
wiley   +1 more source

Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system [PDF]

, 2010
The phenotypes of mitochondrial diseases caused by mutations in mitochondrial DNA (mtDNA) have been proposed to be strictly regulated by the proportion of wild-type and pathogenically mutated mtDNAs. More specifically, it is thought that the onset of the
Hayashi Jun-Ichi, Masaki Haruhiko, Nakada Kazuto, Nishiyama Satoshi, Ogawa Tetsuhiro, Ono Tomio, Sato Akitsugu, Shitara Hiroshi, Suzuki Hidenori, Yonekawa Hiromichi, 中田 和人, 林 純一, 西山 哲史   +12 more
core   +1 more source