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Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
JIMD Rep
January 2025
United for Metabolic Diseases (UMD) The Netherlands.
Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.
View Article and Find Full Text PDFA multivalent binding model infers antibody Fc species from systems serology.
PLoS Comput Biol
December 2024
Department of Bioengineering, University of California, Los Angeles, California, United States of America.
Systems serology aims to broadly profile the antigen binding, Fc biophysical features, immune receptor engagement, and effector functions of antibodies. This experimental approach excels at identifying antibody functional features that are relevant to a particular disease. However, a crucial limitation of this approach is its incomplete description of what structural features of the antibodies are responsible for the observed immune receptor engagement and effector functions.
View Article and Find Full Text PDFMapping the active ingredients and mechanisms of change of a naturalistic developmental behavioral intervention using mixed methods.
J Early Interv
June 2024
Michigan State University, Department of Psychology, East Lansing, MI.
Limited research has examined the active ingredients and mechanisms of change of naturalistic developmental behavioral interventions (NDBIs). The present study used an exploratory sequential mixed-methods design to develop a comprehensive Theory of Change of Project ImPACT, an empirically supported NDBI. We used qualitative data from interviews with intervention experts (n=10), community providers (n=22), and caregivers (n=12) to develop a comprehensive causal model of the intervention process.
View Article and Find Full Text PDFSymmetry breaking and mismatch in the torsional mechanism of ATP synthesis by FF-ATP synthase: mathematical number theory proof and its chemical and biological implications.
Theory Biosci
December 2024
Department of Biochemical Engineering and Biotechnology, Indian Institute of Technology Delhi, Hauz Khas, New Delhi, 110016, India.
Can mathematical proofs be employed for the solution of fundamental molecular-level problems in biology? Recently, I mathematically tackled complex mechanistic problems arising during the synthesis of the universal biological currency, adenosine triphosphate (ATP) by the FF-ATP synthase, nature's smallest rotary molecular motor, using graph-theoretical and combinatorial approaches for the membrane-bound F and water-soluble F domains of this fascinating molecule (see Nath in Theory Biosci 141:249‒260, 2022 and Theory Biosci 143:217‒227, 2024). In the third part of this trilogy, I investigate another critical aspect of the molecular mechanism-that of coupling between the F and F domains of the ATP synthase mediated by the central γ-subunit of nanometer diameter. According to Nath's torsional mechanism of energy transduction and ATP synthesis the γ-subunit twists during ATP synthesis and the release of stored torsional energy in the central γ-stalk causes conformational changes in the catalytic sites that lead to ATP synthesis, with 1 ATP molecule synthesized per discrete 120° rotation.
View Article and Find Full Text PDFRNA modifications in plant adaptation to abiotic stresses.
Plant Commun
December 2024
Jiangsu International Joint Center of Genomics, Jiangsu Key Laboratory of Comparative Genomics, School of Life Sciences, Jiangsu Normal University, Xuzhou, Jiangsu Province 221116, China,. Electronic address:
Epitranscriptomic chemical modifications of RNAs have emerged as potent regulatory mechanisms in the plant stress adaptation process. Currently, over 170 distinct chemical modifications have been identified in mRNAs, tRNAs, rRNAs, microRNAs (miRNAs), and long-noncoding RNAs (lncRNAs). The genetic and molecular studies have identified the genes responsible for adding and removing chemical modifications on RNA molecules, known as "writers" and "erasers," respectively.
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