Ankyrin repeat domain-encoding genes in the wPip strain of Wolbachia from the Culex pipiens group [PDF]
BACKGROUND: Wolbachia are obligate endosymbiotic bacteria maternally transmitted through the egg cytoplasm that are responsible for several reproductive disorders in their insect hosts, such as cytoplasmic incompatibility (CI) in infected mosquitoes ...
Parkhill Julian +25 more
core +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm
Intracranial aneurysm (IA) is a cerebrovascular disorder in which abnormal dilation of a blood vessel results from weakening of the blood vessel wall. The aneurysm may rupture, leading to subarachnoid hemorrhage with severe outcomes.
Junyu Liu +12 more
doaj +1 more source
Ankyrin-G induces nucleoporin Nup358 to associate with the axon initial segment of neurons
ABSTRACT Nup358 (also known as RanBP2) is a member of the large nucleoporin family that constitutes the nuclear pore complex. Depending on the cell type and the physiological state, Nup358 interacts with specific partner proteins and influences distinct mechanisms independent of its role in nucleocytoplasmic transport.
Bouchra Khalaf +7 more
openaire +3 more sources
Research progress on biomarkers of traumatic brain injury
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen +8 more
wiley +1 more source
Ankyrin G Organizes Membrane Components to Promote Coupling of Cell Mechanics and Metabolism
The response of cells to external forces is critical for their development, differentiation, and growth and occurs via rearrangement of the actin cytoskeleton. Cytoskeletal remodeling is energetically costly, yet how cells signal for nutrient uptake remains undefined. In this study, we present evidence that force signals for increased glucose uptake by
Kris DeMali +3 more
openaire +1 more source
ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
Background Following partial injury to the central nervous system, cells beyond the initial injury site undergo secondary degeneration, exacerbating loss of neurons, compact myelin and function.
Ryan L. O’Hare Doig +8 more
doaj +1 more source
Ankyrin-G in skeletal muscle: Tissue-specific alternative splicing contributes to the complexity of the sarcolemmal cytoskeleton☆ [PDF]
Ankyrins are versatile adaptor proteins that join the spectrin-based cytoskeleton to transmembrane proteins, and have roles in organizing the microstructure of cell membranes. Molecular diversity of ankyrins in mammals arises from extensive alternative splicing of the products of three genes.
Hopitzan, Alexander +4 more
openaire +3 more sources
Understanding the Role of Ankyrin-G in Synaptic Biology [PDF]
Ankyrin-G is a fundamental scaffolding protein that organizes neuronal excitable membrane domains, including the axon initial segment (AIS) and nodes of Ranvier.
Nelson, Andrew
core

