Gaucher disease epidemiology and natural history: a comprehensive review of the literature
Hematology, 2017 Objectives: The objectives of this research were: (1) to heighten awareness of Gaucher disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of organ involvement and disease severity, to clinicians most likely to encounter ...
L. Nalysnyk +4 more
semanticscholar +1 more source
Crosstalk between the ribosome quality control‐associated E3 ubiquitin ligases LTN1 and RNF10
FEBS Letters, EarlyView.Loss of the E3 ligase LTN1, the ubiquitin‐like modifier UFM1, or the deubiquitinating enzyme UFSP2 disrupts endoplasmic reticulum–ribosome quality control (ER‐RQC), a pathway that removes stalled ribosomes and faulty proteins. This disruption may trigger a compensatory response to ER‐RQC defects, including increased expression of the E3 ligase RNF10 ...
Yuxi Huang +8 more
wiley +1 more source
Analysis of the Discourse in Imam Hussein's Letters to the Kufans During the Ashura Event [PDF]
پژوهش های تاریخیThe event of Ashura, occurring in the latter half of the first century AH, gave rise to a religious discourse and ideological framework that, while unequivocally denouncing the oppressive ruler, delineated the roles and attributes of the Imam as the ...
Soodabeh Zajkani, Hedieh Taghavi
doaj +1 more source
FEBS Letters, EarlyView.This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley +1 more source
Historical Analysis of Intra-Religious Relations of Twelver Shia Elites in Qom in Response to Tafwidi Thought (202-256 AH) [PDF]
پژوهش های تاریخیThis study explored the impact of the theological concept of Tafwid (delegation) on the intra-religious relations among Twelver Shiite elites in Qom during the years 200 to 256 AH.
Hoda Shaabanpour, Mohammad reza Barani
doaj +1 more source
Interview with scholar, translator and lexicographer Donald Rayfield [PDF]
, 2015 Donald Rayfield is Emeritus Professor of Russian and Georgian at Queen Mary, University of London. He has been at the forefront of Georgian studies for many years and has published widely on Georgia, authoring several major studies on its literature ...
Karetnyk, B, Rayfield, D
core
Real‐time assay of ribonucleotide reductase activity with a fluorescent RNA aptamer
FEBS Letters, EarlyView.Ribonucleotide reductases (RNR) synthesize DNA building blocks de novo, making them crucial in DNA replication and drug targeting. FLARE introduces the first single‐tube real‐time coupled RNR assay, which enables isothermal tracking of RNR activity at nanomolar enzyme levels and allows the reconstruction of allosteric regulatory patterns and rapid ...
Jacopo De Capitani +4 more
wiley +1 more source
Defining institutions: taking history seriously [PDF]
, 2015 This paper suggests an alternative list of institutions to that commonly encountered in the literature on institutional logics. This is done as a response to calls for greater clarity about basic terms.
Mutch, A
core +1 more source
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
FEBS Letters, EarlyView.Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. [PDF]
Genes (Basel), 2023 Copelli MM +7 more
europepmc +1 more source