Gene Editing in <i>Ganoderma lucidum</i>: Development, Challenges, and Future Prospects. [PDF]
He S+5 more
europepmc +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
Gene Editing: An Effective Tool for the Future Treatment of Kidney Disease. [PDF]
Cao ML+7 more
europepmc +1 more source
The evolution of RNA editing and pentatricopeptide repeat genes
Sota Fujii, Ian Small
openalex +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini+24 more
wiley +1 more source
Development of Protoplast-Based Gene Editing System for Areca Palm. [PDF]
Nie H+11 more
europepmc +1 more source
Targeted Editing of Myostatin Gene in Sheep by Transcription Activator-like Effector Nucleases [PDF]
Xinxia Zhao+9 more
openalex +1 more source
The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos+13 more
wiley +1 more source
Advancing Precision Medicine: Recent Innovations in Gene Editing Technologies. [PDF]
Koodamvetty A, Thangavel S.
europepmc +1 more source