Generation of tools for expression and purification of the phage-encoded Type I restriction enzyme inhibitor, Ocr. [PDF]
Alves J+4 more
europepmc +1 more source
Restriction Enzyme Based Enriched L1Hs Sequencing (REBELseq): A Scalable Technique for Detection of Ta Subfamily L1Hs in the Human Genome. [PDF]
Reiner BC+11 more
europepmc +1 more source
Enteric Adenovirus Type 41 Isolates: Cloning, Physical Maps and Diversity in Restriction Enzyme Cleavage Pattern [PDF]
Yumi Yamashita+7 more
openalex +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
DNA methylases for site-selective inhibition of type IIS restriction enzyme activity. [PDF]
Flores-Fernández CN+3 more
europepmc +1 more source
Tagging developmental genes in Dictyostelium by restriction enzyme-mediated integration of plasmid DNA. [PDF]
Adam Kuspa, William F. Loomis
openalex +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee+19 more
wiley +1 more source
Short-range translocation by a restriction enzyme motor triggers diffusion along DNA. [PDF]
Göse M+8 more
europepmc +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu+12 more
wiley +1 more source