Results 111 to 120 of about 25,996 (221)
VKORC1 ER mislocalization causes rare disease
In this issue of Blood , Czogalla et al identify that the rare heritable hemorrhaging disease, vitamin K–dependent clotting factor deficiency type 2 (VKCFD2), is caused by mislocalization of vitamin K epoxide reductase (VKORC1) in the endoplasmic reticulum (ER).[1][1] ![Figure][2 ...
openaire +3 more sources
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney +4 more
wiley +1 more source
14‐3‐3 proteins: Regulators of cardiac excitation–contraction coupling and stress responses
Abstract figure legend 14‐3‐3 protein interactions in cardiac regulation. Schematic representation of 14‐3‐3 binding partners in excitation–contraction coupling, transcriptional regulation/development and stress response pathways. Asterisks indicate targets where the exact 14‐3‐3 binding site is unknown.
Heather C. Spooner, Rose E. Dixon
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hERG1 channels and potential therapeutics for long QT syndrome
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider +3 more
wiley +1 more source
A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby +3 more
wiley +1 more source
Basal energetics and phosphocreatine (PCr) recovery kinetics of the lower leg anterior compartment (primarily tibialis anterior; TA) were evaluated at rest and after dorsiflexion muscle contractions in ambulatory boys with Duchenne muscular dystrophy (DMD) and unaffected controls using 31P‐MRS.
Pratiksha P. Awale +5 more
wiley +1 more source
Hypoxia results in fragmented mitochondria. Whether this fragmentation promotes or prevents cell death is unresolved. Caenorhabditis elegans mutants defective in mitochondrial fission and fusion coupled with a hypoxia resistant Raptor mutant demonstrated that hypoxia‐induced mitochondrial fragmentation occurs without an intact fission machinery and ...
Julien Goldstick +4 more
wiley +1 more source
Abstract Recurrent fusions involving FGFR1‐4 genes have been previously described in rare subsets of mostly benign chondroid and mesenchymal neoplasms involving bone and soft tissue. However, a more comprehensive analysis of sarcomas associated with FGFR fusions, including their incidence and histotypes, has not been performed.
Maximus CF Yeung +4 more
wiley +1 more source
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria +1 more
wiley +1 more source

