Results 61 to 70 of about 15,453 (247)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

Protein and cell therapy for lecithin-cholesterol acyltransferase (LCAT) deficiency [PDF]

open access: yes, 2009
Lecithin-cholesterol acyltransferase (LCAT) is an enzyme principally secreted by the liver into the circulation where it esterifies cholesterol and plays a key role in high- density lipoprotein (HDL) metabolism. In familial and acquired (liver disease)
Low, J K, Low, J.K.
core  

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

open access: yesFEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee   +3 more
wiley   +1 more source

Superficial Vein Thrombosis as the Initial Manifestation of Protein S Deficiency in an Adolescent with Narcolepsy [PDF]

open access: yesSleep Medicine Research, 2016
Protein S (PS) deficiency and narcolepsy have a similar pathomechanism in view of autoimmunity, and they can develop following an infection. However, there is no previous report of a patient with narcolepsy associated with PS deficiency and the ...
Su-Hyun Han, Sang-Ahm Lee
doaj   +1 more source

Protein S Deficiency and The Mechanism of Protein S in Hemostasis and Atherosclerosis

open access: yes, 2023
Protein S (PS) is Vitamin K dependant protein which plays a role in regulating the blood clotting process in the body. Protein S deficiency is explained as a condition characterized by reduced levels of protein S in the serum so that it makes the blood ...
Rizki, Dira Kurnia   +4 more
core  

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Hypercoagulopathy And Serum “Natural Antithrombotic Factors” in Beta-Thalassemia Major

open access: yesمجله دانشکده پزشکی اصفهان, 2008
Background: Hypercoagulopathy is one of the complications of thalassemia; high incidence of right sided heart failure (due to pulmonary hypertension) in some surveys indicates on the importance of this complication.
Alireza Moafi   +2 more
doaj  

Free protein S deficiency in acute ischemic stroke. A case-control study.

open access: yes, 1993
Deficiency of free protein S, a naturally occurring anticoagulant, may be acquired in the setting of acute illness and increasingly has become recognized as a possible stroke risk factor.
Shi, T   +9 more
core   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

open access: yesFEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai   +9 more
wiley   +1 more source

Sneddon syndrome associated with Protein S deficiency

open access: yes, 2012
Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and
SAYIN, Refah   +3 more
core   +1 more source

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