Results 201 to 210 of about 18,384,661 (291)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

open access: yesClinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady   +3 more
wiley   +1 more source

The epigenetic landscape of skeletal muscle in response to exercise and aging

open access: yesThe FEBS Journal, EarlyView.
Epigenetic mechanisms regulate gene expression in response to exercise and aging, thereby supporting skeletal muscle plasticity. Acute exercise induces chromatin remodeling through histone modifications and DNA methylation, promoting the expression of exercise‐responsive genes.
Sabrina Champsi, David A. Hood
wiley   +1 more source

PIP4K2C: an emerging fulcrum for multiple diseases. [PDF]

open access: yesNat Rev Drug Discov
Pozzetti L   +3 more
europepmc   +1 more source

The sorting nexin Snx21 promotes flotillin‐mediated endocytosis

open access: yesThe FEBS Journal, EarlyView.
In this study, we describe a novel function of the previously uncharacterized Snx21 protein as a specific positive regulator of flotillin‐mediated endocytic trafficking. Snx21 is recruited to endosomal membranes via binding to PI(3)P, and it colocalizes with flotillins on the surface of late endosomes.
Tamás Maruzs   +9 more
wiley   +1 more source

NRF2 Stabilization by Isoform-Specific Nuclear Phosphoinositides in Stress Response. [PDF]

open access: yesOral Sci Homeost Med
Tang Y   +6 more
europepmc   +1 more source

CD36‐mediated lipid rewiring in the metabolic adaptation of tumour ecosystems

open access: yesThe FEBS Journal, EarlyView.
Nutrient deprivation drives a lipid‐centric shift in tumour metabolic symbiosis and signalling network. CD36 functions as a bidirectional bridge, transferring fatty acids from stromal donors (adipocytes, CAFs) to the ecosystem tumour‐ and microenvironment‐dependently.
Anna Sebestyén   +11 more
wiley   +1 more source

MyD88‐Family Adaptors: Compartmentalised Signalling and Non‐Immune Functions

open access: yesImmunology, EarlyView.
MyD88‐family adaptors coordinate receptor‐ and compartment‐specific innate immune signalling across plasma membrane and endosomal pathways. At the plasma membrane, TIRAP/MAL supports MyD88‐dependent signalling downstream of TLR2 and TLR4, whereas endosomal TLR7, TLR8 and TLR9 recruit MyD88 directly.
Seshu Vardhan Pothabathula   +6 more
wiley   +1 more source

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