Results 191 to 200 of about 24,285 (335)

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

Glutaminase‐1 Mediated Glutaminolysis to Glutathione Synthesis Maintains Redox Homeostasis and Modulates Ferroptosis Sensitivity in Cancer Cells

open access: yesCell Proliferation, EarlyView.
GLS1‐mediated glutaminolysis supports GSH synthesis in cancer cells. GLS1 KO increases ROS, downregulates GPX4, and upregulates GPX1, making cells more sensitive to ferroptosis. Combining GLS1 or GPX1 inhibitors with a GPX4 inhibitor synergistically suppresses cancer growth.
Changsen Bai   +13 more
wiley   +1 more source

Factors affecting the acyl selectivities of acyltransferases in Escherichia coli.

open access: hybrid, 1976
Harumi Okuyama   +3 more
openalex   +1 more source

Plasma sphingolipids predict advanced liver fibrosis development in patients with type 2 diabetes

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Aims Patients with type 2 diabetes (T2D) are at an elevated risk of developing metabolic dysfunction‐associated steatotic liver disease (MASLD), with a significant likelihood of progression to advanced liver fibrosis (AF)—a stage linked to adverse outcomes.
Sarah Béland‐Bonenfant   +10 more
wiley   +1 more source

Structural unification of diverse transmembrane acyltransferases reveals a conserved fold for the transmembrane acyl transferase (TmAT) superfamily. [PDF]

open access: yesJ Biol Chem
Kinniment-Williams BE   +6 more
europepmc   +1 more source

Metabolic dysfunction‐associated steatotic liver disease, insulin resistance and hepatocellular carcinoma: A deadly triad

open access: yesEuropean Journal of Clinical Investigation, EarlyView.
Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a major global cause of liver disease, driven by obesity and insulin resistance (IR). IR promotes hepatic lipid accumulation, inflammation and mitochondrial dysfunction, accelerating MASLD progression to fibrosis, cirrhosis and hepatocellular carcinoma (HCC).
Alfredo Caturano   +15 more
wiley   +1 more source

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