Results 31 to 40 of about 1,943 (192)

The transcobalamin receptor, redux

open access: yesBlood, 2009
Cobalamin (Cbl; B12) is an essential micronutrient required by all cells in the body. For several decades, we have been aware that Cbl-binding proteins escort B12 to sites of absorption and cellular uptake. Thus, intrinsic factor (IF), with its high-binding specificity for Cbl, mediates the absorption of B12 in the gut. The distribution and delivery of
Donald W. Jacobsen, Alla V. Glushchenko
openaire   +2 more sources

Management of Gaucher Disease Type 1 in a Resource‐Limited Setting: A Pediatric Case Study

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This case report depicts the management of an 8‐year‐old male with Gaucher Disease Type 1, manifesting as massive splenomegaly, anemia, and skeletal involvement in a resource‐constrained environment. Treated with splenectomy due to the absence of enzyme replacement therapy, it underscores the necessity for enhanced therapeutic access and ...
Bipesh Kumar Shah   +4 more
wiley   +1 more source

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Almut Heinken   +5 more
wiley   +1 more source

Is there a role of genetics in acute and chronic urticaria—A systematic review and meta‐analysis

open access: yesClinical and Translational Allergy, Volume 15, Issue 7, July 2025.
Abstract Background Chronic urticaria (CU) is a heterogeneous skin disorder whose genetic drivers are incompletely defined. Objective To systematically review and meta‐analyse genetic and epigenetic factors that influence susceptibility and treatment response in acute and CU.
George N. Konstantinou   +2 more
wiley   +1 more source

Vitamin B12 Levels Association with Functional and Structural Biomarkers of Central Nervous System Injury in Older Adults

open access: yesAnnals of Neurology, Volume 97, Issue 6, Page 1190-1204, June 2025.
At low levels of B12, specifically when bound to transcobalamin for cellular uptake, evidence of slower conductivity in the brain could point toward impaired myelin. At high levels of B12, specifically when bound to the biologically inert transport protein haptocorrin, biomarkers of neurodegeneration appear in the serum, indicating neuroaxonal injury ...
Alexandra Beaudry‐Richard   +22 more
wiley   +1 more source

Corrin Ring Modification in Peptide Drug Development – a Brief History of “Corrination”

open access: yesChemMedChem, Volume 20, Issue 10, May 19, 2025.
This review highlights the applications of vitamin B12 conjugation (“corrination”) to peptides in the field of peptide‐based therapeutics, focusing on improved physio‐chemical properties, targeted/localized drug delivery, and enhanced oral bioavailability.
Nancy Cham, Robert P. Doyle
wiley   +1 more source

Novel Approach to Overcome Osimertinib Resistance Using Bromodomain and Extra‐Terminal Domain Inhibitors

open access: yesCancer Science, Volume 116, Issue 5, Page 1392-1404, May 2025.
Our study found that epigenetic changes, particularly histone modifications regulating FGF1, contribute to osimertinib resistance. Targeting these modifications with BET inhibitors may offer new therapeutic strategies. ABSTRACT Osimertinib, a third‐generation EGFR‐tyrosine kinase inhibitor, is the first‐line therapy for lung cancer harboring EGFR ...
Yosuke Miyashita   +20 more
wiley   +1 more source

Vitamin B12: prevention of human beings from lethal diseases and its food application

open access: yesJournal of the Science of Food and Agriculture, Volume 105, Issue 1, Page 10-18, 15 January 2025.
Abstract Vitamin B12, a water‐soluble essential micronutrient, plays a pivotal role in numerous physiological processes in the human body. This review meticulously examines the structural complexity and the diverse mechanisms through which vitamin B12 exerts its preventive effects against a spectrum of health conditions, including pernicious anaemia ...
S Harikrishnan   +8 more
wiley   +1 more source

Multi‐omics analysis reveals alterations of breastmilk metabolites and proteins in Hong Kong lactating mothers

open access: yesThe FASEB Journal, Volume 38, Issue 23, 15 December 2024.
Multi‐omics analysis was applied in Hong Kong lactating mothers over the 12 months. The altered metabolic pathways included biotin/amino acid/fatty acid metabolism. The accumulation/remodeling of lipids were observed during 12‐month period. Different proteins were mainly related to ribosome and complement component. Abstract The nutritional contents of
Lilong Jiang   +6 more
wiley   +1 more source

Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency—A Case Report

open access: yesClinical Case Reports, Volume 12, Issue 11, November 2024.
ABSTRACT Vitamin B12 deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B12 deficiency in our patient, illustrates the usefulness of performing large panel clinical ...
Per Ole Iversen   +6 more
wiley   +1 more source

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