Matches in SemOpenAlex for { <https://semopenalex.org/work/W1154539206> ?p ?o ?g. }
- W1154539206 endingPage "26" @default.
- W1154539206 startingPage "20" @default.
- W1154539206 abstract "Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve. Since then, an increasing number of symptoms involving the central, peripheral and autonomous nervous systems, with considerable variations of age of onset and severity, have been reported in OPA1 patients. This variety of phenotypes is attributed to differences in the effects of OPA1 mutations, to the mode of inheritance, which may be mono- or bi-allelic, and eventually to somatic mitochondrial DNA mutations. The diversity of the pathophysiological mechanisms involved in OPA1-related disorders is linked to the crucial role played by OPA1 in the maintenance of mitochondrial structure, genome and function. The neurological expression of these disorders highlights the importance of mitochondrial dynamics in neuronal processes such as dendritogenesis, axonal transport, and neuronal survival. Thus, OPA1-related disorders may serve as a paradigm in the wider context of neurodegenerative syndromes, particularly for the development of novel therapeutic strategies against these diseases." @default.
- W1154539206 created "2016-06-24" @default.
- W1154539206 creator A5004813149 @default.
- W1154539206 creator A5008212075 @default.
- W1154539206 creator A5015665453 @default.
- W1154539206 creator A5018701159 @default.
- W1154539206 creator A5021294516 @default.
- W1154539206 creator A5022784044 @default.
- W1154539206 creator A5027313965 @default.
- W1154539206 creator A5029223792 @default.
- W1154539206 creator A5029816810 @default.
- W1154539206 creator A5049879967 @default.
- W1154539206 creator A5056889555 @default.
- W1154539206 creator A5069138611 @default.
- W1154539206 creator A5069738750 @default.
- W1154539206 creator A5074317606 @default.
- W1154539206 creator A5079442376 @default.
- W1154539206 creator A5087178679 @default.
- W1154539206 creator A5091424659 @default.
- W1154539206 date "2016-06-01" @default.
- W1154539206 modified "2023-10-17" @default.
- W1154539206 title "OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology" @default.
- W1154539206 cites W1570973990 @default.
- W1154539206 cites W1580120734 @default.
- W1154539206 cites W1954748650 @default.
- W1154539206 cites W1967445833 @default.
- W1154539206 cites W1969805561 @default.
- W1154539206 cites W1972476228 @default.
- W1154539206 cites W1977791840 @default.
- W1154539206 cites W1989026904 @default.
- W1154539206 cites W1993512907 @default.
- W1154539206 cites W1997938919 @default.
- W1154539206 cites W1998682963 @default.
- W1154539206 cites W1998792500 @default.
- W1154539206 cites W1999053124 @default.
- W1154539206 cites W2005033621 @default.
- W1154539206 cites W2007289467 @default.
- W1154539206 cites W2007351488 @default.
- W1154539206 cites W2009508960 @default.
- W1154539206 cites W2015228553 @default.
- W1154539206 cites W2022524737 @default.
- W1154539206 cites W2028762215 @default.
- W1154539206 cites W2033189241 @default.
- W1154539206 cites W2039321666 @default.
- W1154539206 cites W2040332990 @default.
- W1154539206 cites W2041161641 @default.
- W1154539206 cites W2049282147 @default.
- W1154539206 cites W2049699591 @default.
- W1154539206 cites W2055749053 @default.
- W1154539206 cites W2056880541 @default.
- W1154539206 cites W2061034721 @default.
- W1154539206 cites W2069779268 @default.
- W1154539206 cites W2071118353 @default.
- W1154539206 cites W2071159144 @default.
- W1154539206 cites W2076849173 @default.
- W1154539206 cites W2090290827 @default.
- W1154539206 cites W2091331379 @default.
- W1154539206 cites W2094113524 @default.
- W1154539206 cites W2095295143 @default.
- W1154539206 cites W2099905877 @default.
- W1154539206 cites W2101833075 @default.
- W1154539206 cites W2102625775 @default.
- W1154539206 cites W2104048407 @default.
- W1154539206 cites W2109942343 @default.
- W1154539206 cites W2112785879 @default.
- W1154539206 cites W2117931978 @default.
- W1154539206 cites W2120695551 @default.
- W1154539206 cites W2124154990 @default.
- W1154539206 cites W2124908335 @default.
- W1154539206 cites W2126678078 @default.
- W1154539206 cites W2128055033 @default.
- W1154539206 cites W2129181731 @default.
- W1154539206 cites W2136054837 @default.
- W1154539206 cites W2138704587 @default.
- W1154539206 cites W2145831538 @default.
- W1154539206 cites W2150719622 @default.
- W1154539206 cites W2157168471 @default.
- W1154539206 cites W2161437961 @default.
- W1154539206 cites W2168561659 @default.
- W1154539206 cites W2169501919 @default.
- W1154539206 cites W2172236965 @default.
- W1154539206 doi "https://doi.org/10.1016/j.nbd.2015.08.015" @default.
- W1154539206 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26311407" @default.
- W1154539206 hasPublicationYear "2016" @default.
- W1154539206 type Work @default.
- W1154539206 sameAs 1154539206 @default.
- W1154539206 citedByCount "42" @default.
- W1154539206 countsByYear W11545392062016 @default.
- W1154539206 countsByYear W11545392062017 @default.
- W1154539206 countsByYear W11545392062018 @default.
- W1154539206 countsByYear W11545392062019 @default.
- W1154539206 countsByYear W11545392062020 @default.
- W1154539206 countsByYear W11545392062021 @default.
- W1154539206 countsByYear W11545392062022 @default.
- W1154539206 countsByYear W11545392062023 @default.
- W1154539206 crossrefType "journal-article" @default.
- W1154539206 hasAuthorship W1154539206A5004813149 @default.
- W1154539206 hasAuthorship W1154539206A5008212075 @default.