HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.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
EFFECTS OF SOME CATALYZERS ON REDUCTION VELOCITY OF SOLID IRON OXIDE BY CARBON
, 1951 H. Susukida, Kōkichi Sano
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POTENTIOMETRIC STUDIES IN OXIDATION-REDUCTION REACTIONS PART XIII. OXIDATION WITH POTASSIUM METAPERIODATE [PDF]
, 1953 BAIWANT SINGH, APAR SINGH, ROSHAN SINGH
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The association of seminal oxidation reduction potential with sperm parameters in patients with unexplained and male factor ınfertility. [PDF]
Int Braz J Urol, 2021 Cicek OSY +5 more
europepmc +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.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
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
The microbial ferrous wheel: iron cycling in terrestrial, freshwater, and marine environments
Frontiers in Microbiology, 2012 David eEmerson +2 more
doaj +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
In situ measurements of oxidation-reduction potential and hydrogen peroxide concentration as tools for revealing LPMO inactivation during enzymatic saccharification of cellulose. [PDF]
Biotechnol Biofuels, 2021 Kadić A +4 more
europepmc +1 more source