FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2337370664> ?p ?o ?g. }

• W2337370664 abstract "Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from > 60 y old premutation carriers, in which Zn supplementation significantly restored Zn-dependent mitochondrial protein import/processing and function. Given that mitochondria play a critical role in synaptic transmission, brain function, and cognition, we tested FMRP protein expression, brain bioenergetics and expression of the Zn-dependent synaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (Shank3) in a knock-in (KI) premutation mouse model with 180 CGG repeats. Mitochondrial outcomes correlated with FMRP protein expression (but not FMR1 gene expression) in KI mice and human fibroblasts from carriers of the pre- and full mutation. Significant deficits in brain bioenergetics, Zn levels, and Shank3 protein expression were observed in the Zn-rich regions KI hippocampus and cerebellum at PND21, with some of these effects lasting into adulthood (PND210). A strong genotype x age interaction was observed for most of the outcomes tested in hippocampus and cerebellum, whereas in cortex, age played a major role. Given that the most significant effects were observed at the end of the lactation period, we hypothesized that KI milk might have a role at compounding the deleterious effects on the FMR1 genetic background. A higher gene expression of ZnT4 and ZnT6, Zn transporters abundant in brain and lactating mammary glands, was observed in the latter tissue of KI dams. A cross-fostering experiment allowed improving cortex bioenergetics in KI pups nursing on WT milk. Conversely, WT pups nursing on KI milk showed deficits in hippocampus and cerebellum bioenergetics. A highly significant milk type x genotype interaction was observed for all three-brain regions, being cortex the most influenced. Finally, lower milk-Zn levels were recorded in milk from lactating women carrying the premutation as well as other Zn-related outcomes (Zn-dependent alkaline phosphatase activity and lactose biosynthesis—whose limiting step is the Zn-dependent β-1,4-galactosyltransferase). In premutation carriers, altered Zn homeostasis, brain bioenergetics and Shank3 levels could be compounded by Zn-deficient milk, increasing the risk of developing emotional and neurological/cognitive problems and/or FXTAS later in life." @default.
• W2337370664 created "2016-06-24" @default.
• W2337370664 creator A5008008546 @default.
• W2337370664 creator A5011023379 @default.
• W2337370664 creator A5021154550 @default.
• W2337370664 creator A5021940673 @default.
• W2337370664 creator A5050393121 @default.
• W2337370664 creator A5055005354 @default.
• W2337370664 creator A5072063336 @default.
• W2337370664 creator A5083828821 @default.
• W2337370664 creator A5086196058 @default.
• W2337370664 date "2016-04-19" @default.
• W2337370664 modified "2023-10-14" @default.
• W2337370664 title "Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding" @default.
• W2337370664 cites W111470246 @default.
• W2337370664 cites W1550539311 @default.
• W2337370664 cites W1564909652 @default.
• W2337370664 cites W1606311810 @default.
• W2337370664 cites W1835809573 @default.
• W2337370664 cites W1858755391 @default.
• W2337370664 cites W1932301661 @default.
• W2337370664 cites W1964332543 @default.
• W2337370664 cites W1966052636 @default.
• W2337370664 cites W1970473512 @default.
• W2337370664 cites W1975251186 @default.
• W2337370664 cites W1975712445 @default.
• W2337370664 cites W1980624807 @default.
• W2337370664 cites W1981875905 @default.
• W2337370664 cites W1982708244 @default.
• W2337370664 cites W1985501728 @default.
• W2337370664 cites W1986804263 @default.
• W2337370664 cites W1989269848 @default.
• W2337370664 cites W1990724886 @default.
• W2337370664 cites W1998794024 @default.
• W2337370664 cites W2001035969 @default.
• W2337370664 cites W2001761047 @default.
• W2337370664 cites W2002364516 @default.
• W2337370664 cites W2002663484 @default.
• W2337370664 cites W2002760096 @default.
• W2337370664 cites W2002780348 @default.
• W2337370664 cites W2005078842 @default.
• W2337370664 cites W2008404156 @default.
• W2337370664 cites W2008575045 @default.
• W2337370664 cites W2012322293 @default.
• W2337370664 cites W2017437572 @default.
• W2337370664 cites W2019879347 @default.
• W2337370664 cites W2021637426 @default.
• W2337370664 cites W2022983438 @default.
• W2337370664 cites W2023122132 @default.
• W2337370664 cites W2026731864 @default.
• W2337370664 cites W2026856178 @default.
• W2337370664 cites W2032175754 @default.
• W2337370664 cites W2034014202 @default.
• W2337370664 cites W2039114029 @default.
• W2337370664 cites W2040076595 @default.
• W2337370664 cites W2045298517 @default.
• W2337370664 cites W2049533446 @default.
• W2337370664 cites W2051117273 @default.
• W2337370664 cites W2052326665 @default.
• W2337370664 cites W2053243520 @default.
• W2337370664 cites W2053826038 @default.
• W2337370664 cites W2054115583 @default.
• W2337370664 cites W2054989465 @default.
• W2337370664 cites W2061113435 @default.
• W2337370664 cites W2064172252 @default.
• W2337370664 cites W2065762280 @default.
• W2337370664 cites W2066028564 @default.
• W2337370664 cites W2071825803 @default.
• W2337370664 cites W2072880799 @default.
• W2337370664 cites W2074261331 @default.
• W2337370664 cites W2076627334 @default.
• W2337370664 cites W2076940779 @default.
• W2337370664 cites W2082429191 @default.
• W2337370664 cites W2085674912 @default.
• W2337370664 cites W2086844963 @default.
• W2337370664 cites W2088043161 @default.
• W2337370664 cites W2088252951 @default.
• W2337370664 cites W2088714361 @default.
• W2337370664 cites W2089103196 @default.
• W2337370664 cites W2091011066 @default.
• W2337370664 cites W2092387809 @default.
• W2337370664 cites W2093860914 @default.
• W2337370664 cites W2095872751 @default.
• W2337370664 cites W2096252283 @default.
• W2337370664 cites W2097040123 @default.
• W2337370664 cites W2097122412 @default.
• W2337370664 cites W2098756736 @default.
• W2337370664 cites W2099528685 @default.
• W2337370664 cites W2099899772 @default.
• W2337370664 cites W2101692941 @default.
• W2337370664 cites W2102857922 @default.
• W2337370664 cites W2103770453 @default.
• W2337370664 cites W2104001125 @default.
• W2337370664 cites W2105020148 @default.
• W2337370664 cites W2115295900 @default.
• W2337370664 cites W2116958987 @default.
• W2337370664 cites W2117988450 @default.
• W2337370664 cites W2121324952 @default.
• W2337370664 cites W2121374823 @default.
• W2337370664 cites W2122584840 @default.

• next