Results 211 to 220 of about 341,197 (295)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Merging Biocatalysis and Chemocatalysis in Flow: State‐of‐the‐Art and Future Directions for Sustainable Synthesis

open access: yesAngewandte Chemie, EarlyView.
This review highlights recent advances in integrating biocatalysis and chemocatalysis in continuous flow to create streamlined, sustainable processes. It examines chemo‐enzymatic cascades combining at least one enzymatic and one chemical step, discusses challenges such as enzyme immobilization, leaching, and reactor clogging, and presents solutions ...
Petros Siasiaridis   +2 more
wiley   +2 more sources

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

Stereoselective Biotransformation: Transfer of Learning to Advance Drug Metabolism and Biocatalysis

open access: yesAngewandte Chemie, EarlyView.
Understanding stereoselective biotransformations has implications for predicting drug disposition and response and may also inspire novel biocatalytic and biomimetic strategies to address challenges in metabolite and API synthesis. ABSTRACT Chirality is an important determinant of drug action, as enantiomers can exhibit markedly different ...
Grace A. Okunlola, Godwin A. Aleku
wiley   +2 more sources

Porcine kidney xenotransplantation: From primate models to clinical reality

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo   +3 more
wiley   +1 more source

A Cholesterol Analogue for Cell‐Surface Enzyme Display

open access: yesAngewandte Chemie, EarlyView.
We report a non‐genetic strategy for bacterial cell surface enzyme immobilisation using cholesterol‐based artificial lipids containing Ni2+‐NTA binding groups that can integrate into biological membranes. The engineered cells can capture His‐tagged enzymes directly from cell lysates while preserving intracellular and surface activity, allowing for ...
Vasco F. Batista   +3 more
wiley   +2 more sources

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