FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891044105> ?p ?o ?g. }

• W2891044105 endingPage "360" @default.
• W2891044105 startingPage "345" @default.
• W2891044105 abstract "Mitochondria are small cytosolic organelles and the main source of energy production for the cells, especially in the brain. This organelle has its own genome, the mitochondrial DNA (mtDNA), and genetic variants in this molecule can alter the normal energy metabolism in the brain, contributing to the development of a wide assortment of Neurological Disorders (ND), including neurodevelopmental syndromes, neurodegenerative diseases and neuropsychiatric disorders. These ND are comprised by a heterogeneous group of syndromes and diseases that encompass different cognitive phenotypes and behavioral disorders, such as autism, Asperger's syndrome, pervasive developmental disorder, attention deficit hyperactivity disorder, Huntington disease, Leigh Syndrome and bipolar disorder. In this work we carried out a Systematic Literature Review (SLR) to identify and describe the mitochondrial genetic variants associated with the occurrence of ND. Most of genetic variants found in mtDNA were associated with Single Nucleotide Polimorphisms (SNPs), ~79%, with ~15% corresponding to deletions, ~3% to Copy Number Variations (CNVs), ~2% to insertions and another 1% included mtDNA replication problems and genetic rearrangements. We also found that most of the variants were associated with coding regions of mitochondrial proteins but were also found in regulatory transcripts (tRNA and rRNA) and in the D-Loop replication region of the mtDNA. After analysis of mtDNA deletions and CNV, none of them occur in the D-Loop region. This SLR shows that all transcribed mtDNA molecules have mutations correlated with ND. Finally, we describe that all mtDNA variants found were associated with deterioration of cognitive (dementia) and intellectual functions, learning disabilities, developmental delays, and personality and behavior problems." @default.
• W2891044105 created "2018-09-27" @default.
• W2891044105 creator A5016222647 @default.
• W2891044105 creator A5048323500 @default.
• W2891044105 creator A5052333530 @default.
• W2891044105 creator A5079924990 @default.
• W2891044105 date "2019-05-01" @default.
• W2891044105 modified "2023-10-02" @default.
• W2891044105 title "Frequency and association of mitochondrial genetic variants with neurological disorders" @default.
• W2891044105 cites W1521947818 @default.
• W2891044105 cites W1527874749 @default.
• W2891044105 cites W1532919919 @default.
• W2891044105 cites W1602608999 @default.
• W2891044105 cites W1615790672 @default.
• W2891044105 cites W1737281046 @default.
• W2891044105 cites W1829921885 @default.
• W2891044105 cites W1889516200 @default.
• W2891044105 cites W1900155032 @default.
• W2891044105 cites W1958394803 @default.
• W2891044105 cites W1966276039 @default.
• W2891044105 cites W1968079312 @default.
• W2891044105 cites W1968408636 @default.
• W2891044105 cites W1968577394 @default.
• W2891044105 cites W1969581400 @default.
• W2891044105 cites W1972154486 @default.
• W2891044105 cites W1973941518 @default.
• W2891044105 cites W1976277034 @default.
• W2891044105 cites W1982490855 @default.
• W2891044105 cites W1983364142 @default.
• W2891044105 cites W1983533601 @default.
• W2891044105 cites W1983953315 @default.
• W2891044105 cites W1985185038 @default.
• W2891044105 cites W1989195635 @default.
• W2891044105 cites W1990724886 @default.
• W2891044105 cites W1991909131 @default.
• W2891044105 cites W1993350139 @default.
• W2891044105 cites W1994497830 @default.
• W2891044105 cites W1995746334 @default.
• W2891044105 cites W1996881587 @default.
• W2891044105 cites W1997337905 @default.
• W2891044105 cites W2000462357 @default.
• W2891044105 cites W2000775246 @default.
• W2891044105 cites W2003218116 @default.
• W2891044105 cites W2005330884 @default.
• W2891044105 cites W2007548239 @default.
• W2891044105 cites W2008094492 @default.
• W2891044105 cites W2010755374 @default.
• W2891044105 cites W2012474672 @default.
• W2891044105 cites W2012940306 @default.
• W2891044105 cites W2013667808 @default.
• W2891044105 cites W2014904736 @default.
• W2891044105 cites W2016244330 @default.
• W2891044105 cites W2016693012 @default.
• W2891044105 cites W2018772493 @default.
• W2891044105 cites W2020127384 @default.
• W2891044105 cites W2026684269 @default.
• W2891044105 cites W2028138797 @default.
• W2891044105 cites W2030164588 @default.
• W2891044105 cites W2031102596 @default.
• W2891044105 cites W2034248731 @default.
• W2891044105 cites W2035578240 @default.
• W2891044105 cites W2038610925 @default.
• W2891044105 cites W2040970938 @default.
• W2891044105 cites W2042150717 @default.
• W2891044105 cites W2043201223 @default.
• W2891044105 cites W2043518873 @default.
• W2891044105 cites W2046448574 @default.
• W2891044105 cites W2048396457 @default.
• W2891044105 cites W2060836360 @default.
• W2891044105 cites W2062858947 @default.
• W2891044105 cites W2062866632 @default.
• W2891044105 cites W2064653349 @default.
• W2891044105 cites W2067423049 @default.
• W2891044105 cites W2069404139 @default.
• W2891044105 cites W2072132091 @default.
• W2891044105 cites W2073185743 @default.
• W2891044105 cites W2077465663 @default.
• W2891044105 cites W2078475387 @default.
• W2891044105 cites W2079874805 @default.
• W2891044105 cites W2080176646 @default.
• W2891044105 cites W2080379235 @default.
• W2891044105 cites W2082548421 @default.
• W2891044105 cites W2083741122 @default.
• W2891044105 cites W2086576625 @default.
• W2891044105 cites W2089647631 @default.
• W2891044105 cites W2095037696 @default.
• W2891044105 cites W2095404797 @default.
• W2891044105 cites W2096823250 @default.
• W2891044105 cites W2097453934 @default.
• W2891044105 cites W2099504760 @default.
• W2891044105 cites W2101589244 @default.
• W2891044105 cites W2104941994 @default.
• W2891044105 cites W2105553644 @default.
• W2891044105 cites W2110645149 @default.
• W2891044105 cites W2114269697 @default.
• W2891044105 cites W2117733130 @default.
• W2891044105 cites W2121262376 @default.
• W2891044105 cites W2127492455 @default.

• next