FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2039736612> ?p ?o ?g. }

• W2039736612 endingPage "42" @default.
• W2039736612 startingPage "37" @default.
• W2039736612 abstract "Mutations of the glucocerebrosidase (GBA) gene are the most important risk factor yet discovered for Parkinson disease (PD). Homozygous GBA mutations result in Gaucher disease (GD), a lysosomal storage disorder. Heterozygous mutations have not until recently been thought to be associated with any pathological process. However, it is clear that the presence of a GBA mutation in homozygous or heterozygous form is associated with an approximately 20-fold increase in the risk for PD, with little if any difference in risk burden related to gene dose. Most studies suggest that 5–10% of PD patients have GBA mutations, although this figure is greater in the Ashkenazi population and may be an underestimate overall if the entire exome is not sequenced. GBA-associated PD is clinically indistinguishable from idiopathic PD, except for slightly earlier age of onset and a greater frequency of cognitive impairment. Pathological and imaging features, and response to pharmacotherapy are identical to idiopathic PD. GBA mutations result in reduced enzyme activity and mutant protein may become trapped in the endoplasmic reticulum (ER) leading to unfolded protein response and ER associated degradation and stress. Both mechanisms may be relevant in GD and PD pathogenesis and lead to impaired lysosomal function. Of particular relevance to PD is the interaction of glucocerebrosidase enzyme (GCase) with alpha-synuclein (SNCA). There appears to be a bi-directional reciprocal relationship between GCase levels and those of SNCA. Thus reduced GCase in GBA mutation PD brain is associated with increased SNCA, and increased SNCA deposition is associated with reduced GCase even in GBA wild-type PD brains. It is noteworthy that GBA mutations are also associated with an increase in risk for dementia with Lewy bodies, another synucleinopathy. It has been suggested that the relationship between GCase and SNCA may be leveraged to reduce SNCA levels in PD by enhancing GCase levels and activity. This hypothesis has been confirmed in GBA mutant mice, PD patient fibroblasts and cells with SNCA overexpression, and offers an important target pathway for future neuroprotection therapy in PD. This article is part of a Special Issue entitled ‘Neuronal Protein’." @default.
• W2039736612 created "2016-06-24" @default.
• W2039736612 creator A5059770430 @default.
• W2039736612 date "2015-05-01" @default.
• W2039736612 modified "2023-10-11" @default.
• W2039736612 title "Glucocerebrosidase and Parkinson disease: Recent advances" @default.
• W2039736612 cites W1499176778 @default.
• W2039736612 cites W1837316150 @default.
• W2039736612 cites W1855414224 @default.
• W2039736612 cites W1855979424 @default.
• W2039736612 cites W1945664289 @default.
• W2039736612 cites W1964353444 @default.
• W2039736612 cites W1975932268 @default.
• W2039736612 cites W1976325983 @default.
• W2039736612 cites W1977680862 @default.
• W2039736612 cites W1980315577 @default.
• W2039736612 cites W1981284599 @default.
• W2039736612 cites W1982224533 @default.
• W2039736612 cites W1989812344 @default.
• W2039736612 cites W1992253341 @default.
• W2039736612 cites W1996637092 @default.
• W2039736612 cites W1997935934 @default.
• W2039736612 cites W1998385521 @default.
• W2039736612 cites W2002269285 @default.
• W2039736612 cites W2004865303 @default.
• W2039736612 cites W2009013476 @default.
• W2039736612 cites W2012438903 @default.
• W2039736612 cites W2018001786 @default.
• W2039736612 cites W2019895460 @default.
• W2039736612 cites W2020167843 @default.
• W2039736612 cites W2021567923 @default.
• W2039736612 cites W2025374131 @default.
• W2039736612 cites W2025843054 @default.
• W2039736612 cites W2027096397 @default.
• W2039736612 cites W2031365272 @default.
• W2039736612 cites W2033451896 @default.
• W2039736612 cites W2039701890 @default.
• W2039736612 cites W2046148946 @default.
• W2039736612 cites W2048552052 @default.
• W2039736612 cites W2050855365 @default.
• W2039736612 cites W2052612294 @default.
• W2039736612 cites W2055310246 @default.
• W2039736612 cites W2057979657 @default.
• W2039736612 cites W2063754694 @default.
• W2039736612 cites W2068288454 @default.
• W2039736612 cites W2078005095 @default.
• W2039736612 cites W2079378641 @default.
• W2039736612 cites W2081102375 @default.
• W2039736612 cites W2082307109 @default.
• W2039736612 cites W2085270307 @default.
• W2039736612 cites W2087968969 @default.
• W2039736612 cites W2092011356 @default.
• W2039736612 cites W2096836399 @default.
• W2039736612 cites W2099884882 @default.
• W2039736612 cites W2100271736 @default.
• W2039736612 cites W2104445336 @default.
• W2039736612 cites W2113824125 @default.
• W2039736612 cites W2121349299 @default.
• W2039736612 cites W2122918906 @default.
• W2039736612 cites W2127513771 @default.
• W2039736612 cites W2131409719 @default.
• W2039736612 cites W2134369114 @default.
• W2039736612 cites W2137300912 @default.
• W2039736612 cites W2140225001 @default.
• W2039736612 cites W2141459724 @default.
• W2039736612 cites W2143515674 @default.
• W2039736612 cites W2144140825 @default.
• W2039736612 cites W2144436250 @default.
• W2039736612 cites W2157869491 @default.
• W2039736612 cites W2158930854 @default.
• W2039736612 cites W2159191690 @default.
• W2039736612 cites W2159354524 @default.
• W2039736612 cites W2163130181 @default.
• W2039736612 cites W2165400844 @default.
• W2039736612 cites W2166886278 @default.
• W2039736612 cites W2168021147 @default.
• W2039736612 cites W2170281382 @default.
• W2039736612 doi "https://doi.org/10.1016/j.mcn.2015.03.013" @default.
• W2039736612 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4471139" @default.
• W2039736612 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25802027" @default.
• W2039736612 hasPublicationYear "2015" @default.
• W2039736612 type Work @default.
• W2039736612 sameAs 2039736612 @default.
• W2039736612 citedByCount "176" @default.
• W2039736612 countsByYear W20397366122015 @default.
• W2039736612 countsByYear W20397366122016 @default.
• W2039736612 countsByYear W20397366122017 @default.
• W2039736612 countsByYear W20397366122018 @default.
• W2039736612 countsByYear W20397366122019 @default.
• W2039736612 countsByYear W20397366122020 @default.
• W2039736612 countsByYear W20397366122021 @default.
• W2039736612 countsByYear W20397366122022 @default.
• W2039736612 countsByYear W20397366122023 @default.
• W2039736612 crossrefType "journal-article" @default.
• W2039736612 hasAuthorship W2039736612A5059770430 @default.
• W2039736612 hasBestOaLocation W20397366122 @default.
• W2039736612 hasConcept C104317684 @default.
• W2039736612 hasConcept C126322002 @default.

• next