Results 81 to 90 of about 42,034 (274)
Evolution in Action: Giant Ankyrins Awake [PDF]
Developmental Cell, 2015 Reporting in Developmental Cell, Stephan et al. (2015) demonstrate critical axonal and presynaptic functions from acquisition of an enormous exon by the Drosophila ank2 gene. They propose that highly elongated ank2-XL molecules, associated with the plasma membrane through spectrin and ank2-L, extend deep into the axoplasm to promote microtubule ...
Bennett, Vann, Walder, Kathryn
openaire +2 more sources
Obscurin Regulates Ankyrin Macromolecular Complex Formation
, 2022 Obscurin is a large scaffolding protein in striated muscle that maintains sarcolemmal integrity and aligns the sarcoplasmic reticulum with the underlying contractile machinery.
Subramaniam, Janani +2 more
core +1 more source
Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Developmental Dynamics, EarlyView.Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
Molecular Epitopes of the Ankyrin−Spectrin Interaction [PDF]
Biochemistry, 2008 Isoforms of ankyrin and its binding partner spectrin are responsible for a number of interactions in a variety of human cells. Conflicting evidence, however, had identified two different, non-overlapping human erythroid ankyrin subdomains, Zu5 and 272, as the minimum binding region for beta-spectrin.
Jonathan J, Ipsaro +3 more
openaire +2 more sources
Molecular Therapy: Methods & Clinical Development, 2015 Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene. Despite the inclusion of these elements, the efficacy of
Zulema Romero +12 more
doaj +1 more source
Cell Reports, 2020 Summary: Signaling by the cytokine transforming growth factor β (TGF-β) has been implicated in a multitude of biological functions; however, TGF-β signaling, particularly in the CNS, remains largely unexplored.
Sehyoun Yoon, Euan Parnell, Peter Penzes
doaj +1 more source
Epilepsia, EarlyView.Abstract Heterozygous loss‐of‐function variants in the gene SCN1A, which encodes the voltage‐gated sodium channel (VGSC) pore‐forming (α) subunit NaV1.1, lead to a spectrum of neurological disease, including Dravet syndrome. NaV1.1 is prominently expressed at the proximal portion of the axon initial segment (AIS) of fast‐spiking γ‐aminobutyric ...
Ania K. Dabrowski +4 more
wiley +1 more source
Insights into ANKRD11‐related epilepsy from 163 people
Epilepsia, EarlyView.Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su +6 more
wiley +1 more source
Development of the G3 Designed ankyrin repeat protein (DARPin) for HER2 imaging
, 2015 Background: Human epidermal growth factor receptor-2 (HER2) expression predicts response to anti-HER2 therapy in breast and gastric cancer. HER2 status is assessed by tumour biopsy but this may not be representative of the larger tumour mass or other ...
Goldstein, RM
core
Equine Veterinary Journal, EarlyView.Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska +4 more
wiley +1 more source