Elimination of a group II intron from a plastid gene causes a mutant phenotype
, 2011 Kathrine Birch Petersen +4 more
openalex +1 more source
Medicine Bulletin, EarlyView.ABSTRACT Hemophilic arthropathy (HA), a major complication of hemophilia, is a chronic osteoarthropathy driven by repeated joint bleeding. Although traditional therapies such as coagulation factor replacement, physical rehabilitation, and surgery can manage symptoms, they cannot fundamentally repair established joint damage or break the pathological ...
Lin Sun +8 more
wiley +1 more source
Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase. [PDF]
Nucleic Acids Res, 2018 Carrell ST +4 more
europepmc +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo +14 more
wiley +1 more source
A Highly Proliferative Group IIC Intron from Geobacillus stearothermophilus Reveals New Features of Group II Intron Mobility and Splicing. [PDF]
J Mol Biol, 2018 Mohr G +7 more
europepmc +1 more source
Interpreting pathways to discover cancer driver genes with Moonlight [PDF]
, 2020 al., et +2 more
core +1 more source
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders, EarlyView.Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino +30 more
wiley +1 more source
The group II intron maturase: a reverse transcriptase and splicing factor go hand in hand. [PDF]
Curr Opin Struct Biol, 2017 Zhao C, Pyle AM.
europepmc +1 more source
Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Movement Disorders, EarlyView.Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Movement Disorders, EarlyView.Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu +17 more
wiley +1 more source