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https://www.readbyqxmd.com/read/28445716/trumping-neurodegeneration-targeting-common-pathways-regulated-by-autosomal-recessive-parkinson-s-disease-genes
#1
REVIEW
Laura Scott, Valina L Dawson, Ted M Dawson
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the progressive loss of dopaminergic (DA) neurons. Most PD cases are sporadic; however, rare familial forms have been identified. Autosomal recessive PD (ARPD) results from mutations in Parkin, PINK1, DJ-1, and ATP13A2, while rare, atypical juvenile ARPD result from mutations in FBXO7, DNAJC6, SYNJ1, and PLA2G6. Studying these genes and their function has revealed mitochondrial quality control, protein degradation processes, and oxidative stress responses as common pathways underlying PD pathogenesis...
April 23, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28440746/dual-interaction-of-scaffold-protein-tim44-of-mitochondrial-import-motor-with-channel-forming-translocase-subunit-tim23
#2
See-Yeun Ting, Nicholas L Yan, Brenda A Schilke, Elizabeth A Craig
Proteins destined for the mitochondrial matrix are targeted to the inner membrane Tim17/23 translocon by their presequences. Inward movement is driven by the matrix-localized, Hsp70-based motor. The scaffold Tim44, interacting with the matrix face of the translocon, recruits other motor subunits and binds incoming presequence. The basis of these interactions and their functional relationships remains unclear. Using site-specific in vivo crosslinking and genetic approaches in Saccharomyces cerevisiae, we found that both domains of Tim44 interact with the major matrix-exposed loop of Tim23, with the C-terminal domain (CTD) binding Tim17 as well...
April 25, 2017: ELife
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#3
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28424608/blood-transcriptomic-meta-analysis-identifies-dysregulation-of-hemoglobin-and-iron-metabolism-in-parkinson-disease
#4
Jose A Santiago, Judith A Potashkin
Disrupted iron metabolism has been implicated in the pathogenesis of Parkinson's disease (PD), a progressive neurodegenerative disorder that severely affects movement and coordination, yet the molecular mechanisms underlying this association remain unknown. To this end, we performed a transcriptomic meta-analysis of four blood microarrays in PD. We observed a significant downregulation of genes related to hemoglobin including, hemoglobin delta (HBD), alpha hemoglobin stabilizing protein (ASHP), genes implicated in iron metabolism including, solute carrier family 11 member 2 (SLC11A2), ferrochelatase (FECH), and erythrocyte-specific genes including erythrocyte membrane protein (EPB42), and 5'-aminolevulinate synthase 2 (ALAS2)...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28414942/coenzyme-q10-protects-against-statin-induced-myotoxicity-in-zebrafish-larvae-danio-rerio
#5
Rand Pasha, Thomas W Moon
3-Hydroxy-3-methylglutaryl-CoA reductase (HMGCR) is the rate-limiting enzyme of the mevalonic acid pathway and is required for cholesterol biosynthesis and the synthesis of Coenzyme Q10 (CoQ10). Statins inhibit HMGCR, thus inhibiting the downstream products of this pathway including the biosynthesis of decaprenyl-pyrophosphate that is critical for the synthesis of Coenzyme Q10 (CoQ10). We show that zebrafish (Danio rerio) larvae treated in tank water with Atorvastatin (ATV; Lipitor) exhibited movement alterations and reduced whole body tissue metabolism...
April 1, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/28414059/a-mouse-ocular-explant-model-that-enables-the-study-of-living-optic-nerve-head-events-after-acute-and-chronic-intraocular-pressure-elevation-focusing-on-retinal-ganglion-cell-axons-and-mitochondria
#6
Elizabeth C Kimball, Mary E Pease, Matthew R Steinhart, Ericka N Oglesby, Ian Pitha, Cathy Nguyen, Harry A Quigley
We developed an explant model of the mouse eye and optic nerve that facilitates the study of retinal ganglion cell axons and mitochondria in the living optic nerve head (ONH) in an ex vivo environment. Two transgenic mouse strains were used, one expressing yellow fluorescent protein in selected axons and a second strain expressing cyan fluorescent protein in all mitochondria. We viewed an explanted mouse eye and optic nerve by laser scanning microscopy at and behind the ONH, the site of glaucoma injury. Explants from previously untreated mice were studied with the intraocular pressure (IOP) set artificially at normal or elevated levels for several hours...
April 14, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28410388/tiger-on-the-prowl-invasion-history-and-spatio-temporal-genetic-structure-of-the-asian-tiger-mosquito-aedes-albopictus-skuse-1894-in-the-indo-pacific
#7
Andrew J Maynard, Luke Ambrose, Robert D Cooper, Weng K Chow, Joseph B Davis, Mutizwa O Muzari, Andrew F van den Hurk, Sonja Hall-Mendelin, Jeomhee M Hasty, Thomas R Burkot, Michael J Bangs, Lisa J Reimer, Charles Butafa, Neil F Lobo, Din Syafruddin, Yan Naung Maung Maung, Rohani Ahmad, Nigel W Beebe
BACKGROUND: Within the last century, increases in human movement and globalization of trade have facilitated the establishment of several highly invasive mosquito species in new geographic locations with concurrent major environmental, economic and health consequences. The Asian tiger mosquito, Aedes albopictus, is an extremely invasive and aggressive daytime-biting mosquito that is a major public health threat throughout its expanding range. METHODOLOGY/PRINCIPAL FINDINGS: We used 13 nuclear microsatellite loci (on 911 individuals) and mitochondrial COI sequences to gain a better understanding of the historical and contemporary movements of Ae...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28407867/the-relationship-between-mitochondrial-dna-copy-number-and-stallion-sperm-function
#8
Christa R Darr, Luis E Moraes, Richard E Connon, Charles C Love, Sheila Teague, Dickson D Varner, Stuart A Meyers
Mitochondrial DNA (mtDNA) copy number has been utilized as a measure of sperm quality in several species including mice, dogs, and humans, and has been suggested as a potential biomarker of fertility in stallion sperm. The results of the present study extend this recent discovery using sperm samples from American Quarter Horse stallions of varying age. By determining copy number of three mitochondrial genes, cytochrome b (CYTB), NADH dehydrogenase 1 (ND1) and NADH dehydrogenase 4 (ND4), instead of a single gene, we demonstrate an improved understanding of mtDNA fate in stallion sperm mitochondria following spermatogenesis...
May 2017: Theriogenology
https://www.readbyqxmd.com/read/28400718/rab-gtpases-the-key-players-in-the-molecular-pathway-of-parkinson-s-disease
#9
REVIEW
Meng-Meng Shi, Chang-He Shi, Yu-Ming Xu
Parkinson's disease (PD) is a progressive movement disorder with multiple non-motor symptoms. Although family genetic mutations only account for a small proportion of the cases, these mutations have provided several lines of evidence for the pathogenesis of PD, such as mitochondrial dysfunction, protein misfolding and aggregation, and the impaired autophagy-lysosome system. Recently, vesicle trafficking defect has emerged as a potential pathogenesis underlying this disease. Rab GTPases, serving as the core regulators of cellular membrane dynamics, may play an important role in the molecular pathway of PD through the complex interplay with numerous factors and PD-related genes...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28397803/tomatidine-enhances-lifespan-and-healthspan-in-c-elegans-through-mitophagy-induction-via-the-skn-1-nrf2-pathway
#10
Evandro F Fang, Tyler B Waltz, Henok Kassahun, Qiping Lu, Jesse S Kerr, Marya Morevati, Elayne M Fivenson, Bradley N Wollman, Krisztina Marosi, Mark A Wilson, Wendy B Iser, D Mark Eckley, Yongqing Zhang, Elin Lehrmann, Ilya G Goldberg, Morten Scheibye-Knudsen, Mark P Mattson, Hilde Nilsen, Vilhelm A Bohr, Kevin G Becker
Aging is a major international concern that brings formidable socioeconomic and healthcare challenges. Small molecules capable of improving the health of older individuals are being explored. Small molecules that enhance cellular stress resistance are a promising avenue to alleviate declines seen in human aging. Tomatidine, a natural compound abundant in unripe tomatoes, inhibits age-related skeletal muscle atrophy in mice. Here we show that tomatidine extends lifespan and healthspan in C. elegans, an animal model of aging which shares many major longevity pathways with mammals...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28386123/eastern-mediterranean-mobility-in-the-bronze-and-early-iron-ages-inferences-from-ancient-dna-of-pigs-and-cattle
#11
Meirav Meiri, Philipp W Stockhammer, Nimrod Marom, Guy Bar-Oz, Lidar Sapir-Hen, Peggy Morgenstern, Stella Macheridis, Baruch Rosen, Dorothée Huchon, Joseph Maran, Israel Finkelstein
The Late Bronze of the Eastern Mediterranean (1550-1150 BCE) was a period of strong commercial relations and great prosperity, which ended in collapse and migration of groups to the Levant. Here we aim at studying the translocation of cattle and pigs during this period. We sequenced the first ancient mitochondrial and Y chromosome DNA of cattle from Greece and Israel and compared the results with morphometric analysis of the metacarpal in cattle. We also increased previous ancient pig DNA datasets from Israel and extracted the first mitochondrial DNA for samples from Greece...
April 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28374418/using-relatedness-networks-to-infer-contemporary-dispersal-application-to-the-endangered-mammal-galemys-pyrenaicus
#12
Lídia Escoda, Jorge González-Esteban, Asunción Gómez, Jose Castresana
Information about the degree of contemporary dispersal is important when trying to understand how populations interchange individuals and identify the specific barriers that prevent these movements. In the case of endangered species, this can represent crucial information when designing appropriate conservation strategies. Here we analyze relatedness between individuals from different localities and use these data to infer whether dispersal occurred in recent generations. We applied this approach to the Pyrenean desman (Galemys pyrenaicus), a semiaquatic and endangered species endemic to the Iberian Peninsula...
April 4, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28369142/phylogeny-and-biogeography-of-south-chinese-brown-frogs-ranidae-anura
#13
Yu Zhou, Sirui Wang, Hedan Zhu, Pipeng Li, Baotian Yang, Jianzhang Ma
Few studies have explored the role of Cenozoic tectonic evolution in shaping the patterns and processes of extant animal distributions in and around East Asia. In this study, we selected South Chinese brown frogs as a model to examine the phylogenetic and biogeographical consequences of Miocene tectonic events within South China and its margins. We used mitochondrial and nuclear molecular data to reconstruct phylogenetic interrelationships among Chinese brown frogs using Bayesian and maximum likelihood analyses...
2017: PloS One
https://www.readbyqxmd.com/read/28369108/phylogeographic-patterns-of-lygus-pratensis-hemiptera-miridae-evidence-for-weak-genetic-structure-and-recent-expansion-in-northwest-china
#14
Li-Juan Zhang, Wan-Zhi Cai, Jun-Yu Luo, Shuai Zhang, Chun-Yi Wang, Li-Min Lv, Xiang-Zhen Zhu, Li Wang, Jin-Jie Cui
Lygus pratensis (L.) is an important cotton pest in China, especially in the northwest region. Nymphs and adults cause serious quality and yield losses. However, the genetic structure and geographic distribution of L. pratensis is not well known. We analyzed genetic diversity, geographical structure, gene flow, and population dynamics of L. pratensis in northwest China using mitochondrial and nuclear sequence datasets to study phylogeographical patterns and demographic history. L. pratensis (n = 286) were collected at sites across an area spanning 2,180,000 km2, including the Xinjiang and Gansu-Ningxia regions...
2017: PloS One
https://www.readbyqxmd.com/read/28364549/deleterious-variants-in-trak1-disrupt-mitochondrial-movement-and-cause-fatal-encephalopathy
#15
Ortal Barel, May Christine V Malicdan, Bruria Ben-Zeev, Judith Kandel, Hadass Pri-Chen, Joshi Stephen, Inês G Castro, Jeremy Metz, Osama Atawa, Sharon Moshkovitz, Eti Ganelin, Iris Barshack, Sylvie Polak-Charcon, Dvora Nass, Dina Marek-Yagel, Ninette Amariglio, Nechama Shalva, Thierry Vilboux, Carlos Ferreira, Ben Pode-Shakked, Gali Heimer, Chen Hoffmann, Tal Yardeni, Andreea Nissenkorn, Camila Avivi, Eran Eyal, Nitzan Kol, Efrat Glick Saar, Douglas C Wallace, William A Gahl, Gideon Rechavi, Michael Schrader, David M Eckmann, Yair Anikster
Cellular distribution and dynamics of mitochondria are regulated by several motor proteins and a microtubule network. In neurons, mitochondrial trafficking is crucial because of high energy needs and calcium ion buffering along axons to synapses during neurotransmission. The trafficking kinesin proteins (TRAKs) are well characterized for their role in lysosomal and mitochondrial trafficking in cells, especially neurons. Using whole exome sequencing, we identified homozygous truncating variants in TRAK1 (NM_001042646:c...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28352298/low-genetic-diversity-but-strong-population-structure-reflects-multiple-introductions-of-western-flower-thrips-thysanoptera-thripidae-into-china-followed-by-human-mediated-spread
#16
Li-Jun Cao, Ze-Hua Wang, Ya-Jun Gong, Liang Zhu, Ary Anthony Hoffmann, Shu-Jun Wei
Historical invasion scenarios based on observational records are usually incomplete and biased, but these can be supplemented by population genetic data. The western flower thrips (WFT), Frankliniella occidentalis, invaded China in the last 13 years and has rapidly become one of the most serious pests in the country. To assess whether this invasion involved a single event or multiple events, we examined patterns of genetic diversity and population structure of WFT across 12 Chinese populations and a native US population based on mitochondrial DNA and/or 18 microsatellite loci...
April 2017: Evolutionary Applications
https://www.readbyqxmd.com/read/28344061/compartmentation-of-mitochondrial-and-oxidative-metabolism-in-growing-hair-follicles-a-ring-of-fire
#17
John J Lemasters, Venkat K Ramshesh, Gregory L Lovelace, John Lim, Graham D Wright, Duane Harland, Thomas L Dawson
Little is known about the energetics of growing hair follicles, particularly in the mitochondrially abundant bulb. Here, mitochondrial and oxidative metabolism was visualized by multiphoton and light sheet microscopy in cultured bovine hair follicles and plucked human hairs. Mitochondrial membrane potential (ΔΨ), cell viability, reactive oxygen species (ROS) and secretory granules were assessed with parameter-indicating fluorophores. In growing follicles, lower bulb epithelial cells had high viability, and mitochondria were polarized...
March 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28334247/genetic-population-structure-of-dastarcus-helophoroides-coleoptera-bothrideridae-from-different-long-horned-beetle-hosts-based-on-complete-sequences-of-mitochondrial-coi
#18
Zhengqing Zhang, Yong Chang, Menglou Li
Dastarcus helophoroides (Fairmaire) (Coleoptera: Bothrideridae) is an important natural enemy of long-horned beetles in China, Japan, and Korea. In this study, the genetic sequence of cytochrome oxidase subunit Ι was used to investigate the genetics and relationships within and among D. helophoroides populations collected from five different geographic locations. We used principal component analysis, heatmap, and Venn diagram results to determine the relationship between haplotypes and populations. In total, 26 haplotypes with 51 nucleotide polymorphic sites were defined, and low genetic diversity was found among the different populations...
March 3, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#19
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28325525/clinical-heterogeneity-of-glycine-encephalopathy-in-three-palestinian-siblings-a-novel-mutation-in-the-glycine-decarboxylase-gldc-gene
#20
Waseem Khraim, Bassam Abu-Libdeh, Suhail Ayesh, Imad Dweikat
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. This defect results in elevated glycine concentration in plasma and cerebrospinal fluid (CSF). Clinical manifestations vary from severe lethargy, hypoactivity and apneic episodes in the neonatal form, mild or moderate psychomotor delay and seizures in the infantile form, and abnormal behaviors, ataxia and choreoathetoid movements in late onset form...
March 18, 2017: Brain & Development
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