Identification of key genes governing diester alkaloid biosynthesis in different tissues of Aconitum kusnezoffii. [PDF]
Wu R +6 more
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Complete genome sequencing of <i>Lactobacillus pentosus</i> HP-B1718 and identification of the key enzyme for liquiritin biotransformation. [PDF]
Tan ZW +8 more
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Sequencing, annotation and analysis of the genome of <i>Oxycarenus hyalinipennis</i>, the cotton seed bug. [PDF]
Heraghty SD +8 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
AEGIS: an annotation extraction and genomic integration resource. [PDF]
Navarro-Payá D +5 more
europepmc +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Chromosome-scale genome assembly and characterization of Saccharomycopsis schoenii, a necrotrophic predatory yeast. [PDF]
Kriti D +4 more
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source

