Results 131 to 140 of about 731,846 (342)
FEBS Open Bio, EarlyView.CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point +7 more
wiley +1 more source
FEBS Open Bio, EarlyView.We analyzed alterations of PAR metabolism‐related proteins in PARG inhibitor‐resistant HCT116RPDD cells. Although PARG levels remained unchanged, HCT116RPDD cells exhibited reduced PARP1 and ARH3 expression and elevated PAR levels. Interestingly, HCT116RPDD cells exhibited slightly elevated intracellular NAD+/NADH and ATP levels. Our findings suggest a
Kaede Tsuda, Yoko Ogino, Akira Sato
wiley +1 more source
BMI‐1 modulation and trafficking during M phase in diffuse intrinsic pontine glioma
FEBS Open Bio, EarlyView.The schematic illustrates BMI‐1 phosphorylation during M phase, which triggers its translocation from the nucleus to the cytoplasm. In cycling cells, BMI‐1 functions within the PRC1 complex to mediate H2A K119 monoubiquitination. Following PTC596‐induced M phase arrest, phosphorylated BMI‐1 dissociates from PRC1 and is exported to the cytoplasm via its
Banlanjo Umaru +6 more
wiley +1 more source
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
Whole-genome resequencing reveals new mutations in candidate genes for Beichuan-white goat prolificacya [PDF]
, 2023 Aimin Zhou +6 more
openalex +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
High mutation rate in prolactin intron 2 regulates egg-laying performance in Wanjiang white goose [PDF]
, 2011 Jie Chen, Genlin Wang, Yafei Cai
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
A Determination of the Magnitude of the Cell “Sensitive Volume” Associated with the White-Eye Mutation in X-Rayed Drosophila— [PDF]
, 1936 Caryl P. Haskins, E. V. Enzmann
openalex +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source