Results 201 to 210 of about 104,843 (319)

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

open access: yesEpilepsia, EarlyView.
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

open access: yesThe FEBS Journal, EarlyView.
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

A signal transduction blind spot: the function of adenylyl cyclase transmembrane domains

open access: yesThe FEBS Journal, EarlyView.
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]

open access: yesJ Biol Chem
Parthasarathy A   +8 more
europepmc   +1 more source

Release and metabolism of arachidonic acid in human neutrophils.

open access: hybrid, 1981
Christopher Walsh   +3 more
openalex   +1 more source

Natural aminosterols inhibit NMDA receptors with low nanomolar potency

open access: yesThe FEBS Journal, EarlyView.
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

Home - About - Disclaimer - Privacy