MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa+28 more
wiley +1 more source
FAHD1 and mitochondrial metabolism: a decade of pioneering discoveries
This paper reviews a decade of research on FAHD1, an important yet underappreciated enzyme in mitochondrial metabolism. FAHD1 plays a crucial role in energy production, oxidative stress regulation, and processes related to aging and overall health.
Elia Cappuccio+9 more
wiley +1 more source
The inhibitory effects of BW 755C on arachidonic acid metabolism in human polymorphonuclear leukocytes [PDF]
Olof Rádmark+2 more
openalex +1 more source
LPCAT3 regulates the proliferation and metastasis of serous ovarian cancer by modulating arachidonic acid. [PDF]
Wen F+7 more
europepmc +1 more source
A signal transduction blind spot: the function of adenylyl cyclase transmembrane domains
Transmembrane adenylyl cyclases (tmACs) are essential for synthesising the universal second messenger cyclic AMP. All tmACs share a common topology that includes a large 12‐helix transmembrane (TM) domain. This domain accounts for ~ 35% of the coding sequence but its function is still an open question.
Ryan S. Dowsell, Matthew G. Gold
wiley +1 more source
Phosphorylation of distal C-terminal residues promotes TRPV4 channel activation in response to arachidonic acid. [PDF]
Parthasarathy A+8 more
europepmc +1 more source
Release and metabolism of arachidonic acid in human neutrophils.
Christopher Walsh+3 more
openalex +1 more source
Natural aminosterols inhibit NMDA receptors with low nanomolar potency
Misfunction of N‐methyl‐D‐aspartate (NMDA) receptors is associated with many brain disorders, making them primary targets for drug discovery. Trodusquemine and other natural aminosterols inhibit NMDA receptors with low nanomolar potency through binding to the cell membranes followed by interaction with the channels.
Giulia Fani+9 more
wiley +1 more source
Effects of Salmonella Typhimurium infection on intestinal flora and intestinal tissue arachidonic acid metabolism in Wenchang chickens. [PDF]
Chen S+6 more
europepmc +1 more source