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- W3048238376 endingPage "1592" @default.
- W3048238376 startingPage "1579" @default.
- W3048238376 abstract "Abstract Neuropathological disorders are increasingly associated with dysfunctions in neuronal membrane traffic and autophagy, with defects among members of the Rab family of small GTPases implicated. Mutations in the human Xq28 localized gene RAB39B have been associated with X‐linked neurodevelopmental defects including macrocephaly, intellectual disability, autism spectrum disorder (ASD), as well as rare cases of early‐onset Parkinson's disease (PD). Despite the finding that RAB39B regulates GluA2 trafficking and could thus influence synaptic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor subunit composition, reasons for the wide‐ranging neuropathological consequences associated with RAB39B defects have been unclear. Recent studies have now unraveled possible mechanisms underlying the neuropathological roles of this brain‐enriched small GTPase. Studies in RAB39B knockout mice showed that RAB39B interacts with components of Class I phosphatidylinositol‐3‐kinase (PI3K) signaling. In its absence, the PI3K‐AKT‐mechanistic target of rapamycin signaling pathway in neural progenitor cells (NPCs) is hyperactivated, which promotes NPC proliferation, leading to macrocephaly and ASD. Pertaining to early‐onset PD, a complex of C9orf72, Smith–Magenis syndrome chromosome region candidate 8 and WD repeat domain 41 that functions in autophagy has been identified as a guanine nucleotide exchange factor of RAB39B. Here, recent findings that have shed light on our mechanistic understanding of RAB39B's role in neurodevelopmental and neurodegenerative pathologies are reviewed. Caveats and unanswered questions are also discussed, and future perspectives outlined." @default.
- W3048238376 created "2020-08-13" @default.
- W3048238376 creator A5081582808 @default.
- W3048238376 date "2020-08-06" @default.
- W3048238376 modified "2023-10-18" @default.
- W3048238376 title "RAB39B's role in membrane traffic, autophagy, and associated neuropathology" @default.
- W3048238376 cites W1577811814 @default.
- W3048238376 cites W1679992491 @default.
- W3048238376 cites W1796096082 @default.
- W3048238376 cites W1797572428 @default.
- W3048238376 cites W1953849490 @default.
- W3048238376 cites W1955514224 @default.
- W3048238376 cites W1967869164 @default.
- W3048238376 cites W1972943699 @default.
- W3048238376 cites W1982701732 @default.
- W3048238376 cites W1984095697 @default.
- W3048238376 cites W1985670883 @default.
- W3048238376 cites W1994076399 @default.
- W3048238376 cites W1994668150 @default.
- W3048238376 cites W1998625876 @default.
- W3048238376 cites W2000856336 @default.
- W3048238376 cites W2001908635 @default.
- W3048238376 cites W2002978574 @default.
- W3048238376 cites W2010612415 @default.
- W3048238376 cites W2028211975 @default.
- W3048238376 cites W2028307218 @default.
- W3048238376 cites W2034499520 @default.
- W3048238376 cites W2036681019 @default.
- W3048238376 cites W2045419701 @default.
- W3048238376 cites W2047813205 @default.
- W3048238376 cites W2048202212 @default.
- W3048238376 cites W2054536403 @default.
- W3048238376 cites W2061123111 @default.
- W3048238376 cites W2062237973 @default.
- W3048238376 cites W2064949318 @default.
- W3048238376 cites W2069171272 @default.
- W3048238376 cites W2069197807 @default.
- W3048238376 cites W2072698881 @default.
- W3048238376 cites W2073144689 @default.
- W3048238376 cites W2073203830 @default.
- W3048238376 cites W2074166336 @default.
- W3048238376 cites W2077091529 @default.
- W3048238376 cites W2082416335 @default.
- W3048238376 cites W2097718039 @default.
- W3048238376 cites W2100838304 @default.
- W3048238376 cites W2102400397 @default.
- W3048238376 cites W2105072342 @default.
- W3048238376 cites W2111781019 @default.
- W3048238376 cites W2117503265 @default.
- W3048238376 cites W2118510420 @default.
- W3048238376 cites W2119808615 @default.
- W3048238376 cites W2120460631 @default.
- W3048238376 cites W2123431154 @default.
- W3048238376 cites W2124363259 @default.
- W3048238376 cites W2127027434 @default.
- W3048238376 cites W2132191094 @default.
- W3048238376 cites W2138207816 @default.
- W3048238376 cites W2142047537 @default.
- W3048238376 cites W2145023584 @default.
- W3048238376 cites W2146647216 @default.
- W3048238376 cites W2150523249 @default.
- W3048238376 cites W2150656456 @default.
- W3048238376 cites W2152148024 @default.
- W3048238376 cites W2154309656 @default.
- W3048238376 cites W2154737306 @default.
- W3048238376 cites W2154945114 @default.
- W3048238376 cites W2156200367 @default.
- W3048238376 cites W2157606687 @default.
- W3048238376 cites W2158930854 @default.
- W3048238376 cites W2167044870 @default.
- W3048238376 cites W2167291913 @default.
- W3048238376 cites W2205732033 @default.
- W3048238376 cites W2217094724 @default.
- W3048238376 cites W2233837568 @default.
- W3048238376 cites W2253950023 @default.
- W3048238376 cites W2295885675 @default.
- W3048238376 cites W2300002878 @default.
- W3048238376 cites W2302774748 @default.
- W3048238376 cites W2309462796 @default.
- W3048238376 cites W2328811410 @default.
- W3048238376 cites W2334207469 @default.
- W3048238376 cites W2336528486 @default.
- W3048238376 cites W2339272209 @default.
- W3048238376 cites W2343920803 @default.
- W3048238376 cites W2402129372 @default.
- W3048238376 cites W2406553940 @default.
- W3048238376 cites W2419601133 @default.
- W3048238376 cites W2467513012 @default.
- W3048238376 cites W2472752159 @default.
- W3048238376 cites W2483956866 @default.
- W3048238376 cites W2494933127 @default.
- W3048238376 cites W2500755599 @default.
- W3048238376 cites W2507179027 @default.
- W3048238376 cites W2510621258 @default.
- W3048238376 cites W2524341913 @default.
- W3048238376 cites W2528234660 @default.
- W3048238376 cites W2535504981 @default.
- W3048238376 cites W2553119477 @default.