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
Prime Decompositions of Radicals in Polynomial Rings
Michael Kalkbrener
openalex +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
Predicting the Fate of Bisphenol A During Electrochemical Oxidation: A Simple Semiempirical Method Based on the Concentration Profile of Hydroxyl Radicals. [PDF]
Ječmenica Dučić M+6 more
europepmc +1 more source
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano+15 more
wiley +1 more source
Theoretical Kinetic Study of Thermal Decomposition of 5-Methyl-2-ethylfuran. [PDF]
He W+6 more
europepmc +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden+15 more
wiley +1 more source
Electron donor-acceptor complex-driven photocatalyst-free synthesis of nitrocyclopropanes. [PDF]
Pérez-Ramos P+3 more
europepmc +1 more source