UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.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
Stimulation of Enzyme Reaction Rates by Crystalline Substrate Irradiation: Dependence on Identity of Irradiated Substance [PDF]
arXiv, 2013 The study reported here concerns a phenomenon, discovered and extensively investigated by Sorin Comorosan, wherein enzyme initial reaction rates are enhanced as a consequence of incorporation of solutions derived from previously irradiated crystalline material into the reaction medium.
arxiv
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
Lactic dehydrogenase and cytochrome b2 of baker's yeast. Purification and crystallization [PDF]
, 1959 Cyril A. Appleby, R. K. Morton
openalex +1 more source
AgricultureOur study aimed to assess the impact of sprinkler irrigation on the activity of selected soil enzymes in terms of nitrogen metabolism and oxidation–reduction processes in soil with different doses of inorganic nitrogen fertilizers. An Alfisol was sampled
Anetta Siwik-Ziomek +1 more
doaj +1 more source
Theoretic Insight into CO2 Reduction at Active Sites of Molybdenum and Tungsten Enzymes: a π Interaction between CO2 and Tungsten Bis-Dithiolene Complexes [PDF]
arXiv, 2014 Active sites of molybdenum and tungsten enzymes, particularly mononuclear tungsten formate dehydrogenase (FDH) have been theoretically investigated towards their interaction with CO2. Obvious {\pi} interaction has been found between the 2e reduced metallodithiole moiety and the molecular CO2.
arxiv
, 2004 Preliminary analysis of two selected genomic regions of Buchnera aphidicola BCc, the primary endosymbiont of the cedar aphid Cinara cedri, has revealed a number of interesting features when compared with the corresponding homologous regions of the three ...
Gil, Rosario +3 more
core +1 more source
An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu +13 more
wiley +1 more source
FORMIC DEHYDROGENASE AND THE HYDROGENLYASE ENZYME COMPLEX IN COLI-AEROGENES BACTERIA [PDF]
, 1957 Harry D. Peck, Howard Gest
openalex +1 more source
Effect of different soil usage on microbial properties in soils of Central Serbia [PDF]
Ratarstvo i Povrtarstvo, 2018 Aim of the study was to examine the effects of soil use on soil microbial properties at five locations in Central Serbia. The study included 42 samples of soil under certified organic system, 8 samples under conventional system, and 30 samples of ...
Marinković Jelena +5 more
doaj