Results 191 to 200 of about 24,238 (294)

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

open access: yesThe FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer   +6 more
wiley   +1 more source

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

open access: yesThe FEBS Journal, EarlyView.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano   +10 more
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

open access: yesHaemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti   +3 more
wiley   +1 more source

Australian clinical practice guideline: diagnosis and treatment of idiopathic multicentric Castleman disease

open access: yesInternal Medicine Journal, EarlyView.
Abstract Idiopathic multicentric Castleman disease (iMCD) is a rare condition. The pathogenesis is incompletely understood; however, interleukin‐6 (IL‐6) is a major mediator. The clinical presentation is heterogeneous, from mild constitutional symptoms to severe multi‐organ failure.
Dipti Talaulikar   +16 more
wiley   +1 more source

Pentatricopeptide repeat proteins in crops: Advances in functional mechanisms and breeding applications

open access: yesJournal of Integrative Plant Biology, EarlyView.
Pentatricopeptide repeat proteins coordinate nucleus‐organelle communication by modulating RNA metabolism within chloroplasts and mitochondria. This review highlights how they control critical processes like photosynthesis, seed development, fertility restoration, and stress survival in crops, and explores their potential as programmable tools for RNA ...
Mingming Wu   +7 more
wiley   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold   +4 more
wiley   +1 more source

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