Results 91 to 100 of about 9,256,185 (298)
The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation
FEBS Letters, EarlyView.Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge +6 more
wiley +1 more source
مجلة كلية الطبBackground: X-linked hypophosphatemic rickets (XLHR) is the most frequent form of inherited rickets. In children, stunted growth and disproportionately short stature are frequently the early signs of XLHR.
Munib A. Al-Zubaidi , Wasnaa H. Abdullah
doaj +1 more source
Newborn Screening for X-Linked Adrenoleukodystrophy
International Journal of Neonatal Screening, 2016 Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article
Ann B. Moser +7 more
doaj +1 more source
Prospecting the protein design landscape
FEBS Letters, EarlyView.This review outlines the current state of various protein design approaches. We discuss the current possibilities enabled by recently released tools, highlight future avenues to pursue in protein design, and underscore the crucial role of key databases and resources for successful protein design workflows.
Jakob R. Riccabona +4 more
wiley +1 more source
X-linked disorders with cerebellar dysgenesis
Orphanet Journal of Rare Diseases, 2011 X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene ...
Bertini Enrico S, Zanni Ginevra
doaj +1 more source
RNA‐related functions of BRCA2 in transcription, replication, and genome stability
FEBS Letters, EarlyView.Beyond its role in homologous recombination, BRCA2 regulates R‐loop homeostasis, DNA–RNA hybrid resolution, RNA polymerase II dynamics, and transcriptional activation. Disruption of any of these functions can contribute to genome instability, inflammatory signaling, and tumorigenesis. BRCA2 is a central tumor suppressor protein best known for its roles
Lucia Alvaro‐Aranda +2 more
wiley +1 more source
Congenital X-Linked Autophagic Vacuolar Myopathy
Pediatric Neurology Briefs, 2005 A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affecting 7 boys is reported from the National Center of Neurology and Psychiatry, Kodaira, Tokyo, and Utano National Hospital, Kyoto, Japan; and Shandong ...
J Gordon Millichap
doaj +1 more source
FEBS Letters, EarlyView.Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise +5 more
wiley +1 more source
Severe phenotype of X‐linked dominant chondrodysplasia punctata
Clinical Case Reports, 2017 Key Clinical Message A prenatally ascertained case representing the more severe end of the X‐linked dominant chondrodysplasia punctata (CDPX2).
Nadirah Damseh +6 more
doaj +1 more source
Fixed differences between XST and XSR are overwhelmingly X-linked.
, 2014 Fixed differences between XST and XSR are overwhelmingly X-linked.
Gerald S. Wilkinson (241744) +5 more
core +1 more source