Matches in SemOpenAlex for { <https://semopenalex.org/work/W2531350834> ?p ?o ?g. }
- W2531350834 endingPage "31" @default.
- W2531350834 startingPage "31" @default.
- W2531350834 abstract "Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death. Many LSDs exhibit signs of mitochondrial dysfunction, which include mitochondrial morphological changes, decreased mitochondrial membrane potential (ΔΨm), diminished ATP production and increased generation of reactive oxygen species (ROS). Furthermore, reduced autophagic flux may lead to the persistence of dysfunctional mitochondria. Gaucher disease (GD), the LSD with the highest prevalence, is caused by mutations in the GBA1 gene that results in defective and insufficient activity of the enzyme β-glucocerebrosidase (GCase). Decreased catalytic activity and/or instability of GCase leads to accumulation of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) in the lysosomes of macrophage cells and visceral organs. Mitochondrial dysfunction has been reported to occur in numerous cellular and mouse models of GD. The aim of this manuscript is to review the current knowledge and implications of mitochondrial dysfunction in LSDs." @default.
- W2531350834 created "2016-10-21" @default.
- W2531350834 creator A5007674888 @default.
- W2531350834 creator A5011675522 @default.
- W2531350834 creator A5037732314 @default.
- W2531350834 creator A5044541198 @default.
- W2531350834 creator A5044720746 @default.
- W2531350834 creator A5047814627 @default.
- W2531350834 creator A5048016361 @default.
- W2531350834 creator A5048625168 @default.
- W2531350834 creator A5091005142 @default.
- W2531350834 date "2016-10-11" @default.
- W2531350834 modified "2023-10-15" @default.
- W2531350834 title "Mitochondrial Dysfunction in Lysosomal Storage Disorders" @default.
- W2531350834 cites W1104977322 @default.
- W2531350834 cites W1487815535 @default.
- W2531350834 cites W1507609309 @default.
- W2531350834 cites W1509821238 @default.
- W2531350834 cites W1510849499 @default.
- W2531350834 cites W1513559308 @default.
- W2531350834 cites W1529235958 @default.
- W2531350834 cites W1540651760 @default.
- W2531350834 cites W1582210025 @default.
- W2531350834 cites W1780178978 @default.
- W2531350834 cites W1799409770 @default.
- W2531350834 cites W1820897387 @default.
- W2531350834 cites W1900339045 @default.
- W2531350834 cites W1968265417 @default.
- W2531350834 cites W1970541648 @default.
- W2531350834 cites W1970661950 @default.
- W2531350834 cites W1971059614 @default.
- W2531350834 cites W1972403339 @default.
- W2531350834 cites W1980162202 @default.
- W2531350834 cites W1995400056 @default.
- W2531350834 cites W1996009884 @default.
- W2531350834 cites W1997873957 @default.
- W2531350834 cites W2011555635 @default.
- W2531350834 cites W2014323841 @default.
- W2531350834 cites W2019763307 @default.
- W2531350834 cites W2037627674 @default.
- W2531350834 cites W2040826935 @default.
- W2531350834 cites W2045851185 @default.
- W2531350834 cites W2046110239 @default.
- W2531350834 cites W2046148946 @default.
- W2531350834 cites W2053599433 @default.
- W2531350834 cites W2055798927 @default.
- W2531350834 cites W2058885609 @default.
- W2531350834 cites W2065734345 @default.
- W2531350834 cites W2078623693 @default.
- W2531350834 cites W2079378641 @default.
- W2531350834 cites W2082307109 @default.
- W2531350834 cites W2082796679 @default.
- W2531350834 cites W2087968969 @default.
- W2531350834 cites W2092515387 @default.
- W2531350834 cites W2092699248 @default.
- W2531350834 cites W2100454943 @default.
- W2531350834 cites W2104073327 @default.
- W2531350834 cites W2106394784 @default.
- W2531350834 cites W2108086395 @default.
- W2531350834 cites W2111342035 @default.
- W2531350834 cites W2115716807 @default.
- W2531350834 cites W2115786358 @default.
- W2531350834 cites W2118078772 @default.
- W2531350834 cites W2122916113 @default.
- W2531350834 cites W2131007152 @default.
- W2531350834 cites W2134893181 @default.
- W2531350834 cites W2139285220 @default.
- W2531350834 cites W2140941560 @default.
- W2531350834 cites W2142837263 @default.
- W2531350834 cites W2146317410 @default.
- W2531350834 cites W2148810030 @default.
- W2531350834 cites W2151402740 @default.
- W2531350834 cites W2152165298 @default.
- W2531350834 cites W2157879044 @default.
- W2531350834 cites W2165268250 @default.
- W2531350834 cites W2167987042 @default.
- W2531350834 cites W2169923780 @default.
- W2531350834 cites W2170620150 @default.
- W2531350834 cites W2180290202 @default.
- W2531350834 cites W2249028583 @default.
- W2531350834 cites W2256887610 @default.
- W2531350834 cites W2398648256 @default.
- W2531350834 cites W2511108873 @default.
- W2531350834 doi "https://doi.org/10.3390/diseases4040031" @default.
- W2531350834 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5456326" @default.
- W2531350834 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28933411" @default.
- W2531350834 hasPublicationYear "2016" @default.
- W2531350834 type Work @default.
- W2531350834 sameAs 2531350834 @default.
- W2531350834 citedByCount "42" @default.
- W2531350834 countsByYear W25313508342017 @default.
- W2531350834 countsByYear W25313508342018 @default.
- W2531350834 countsByYear W25313508342019 @default.
- W2531350834 countsByYear W25313508342020 @default.
- W2531350834 countsByYear W25313508342021 @default.
- W2531350834 countsByYear W25313508342022 @default.
- W2531350834 countsByYear W25313508342023 @default.
- W2531350834 crossrefType "journal-article" @default.