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7 Results Found

  • Case Report
  • Open Access
386 Views
8 Pages

Identification of CD320-Associated Cobalamin Transport Deficiency Through Newborn Screening Caused by Novel Homozygous Candidate Variants

  • Faisal Almalki,
  • Amal Saleh Alsofyany,
  • Abdulaziz K. Almalki,
  • Ashraf Oudah Abu Shuaylan and ,
  • Haya Alruqi and
  • Jwaher Mesleh Althobiti
  • + 1 author+ 0 author

12 September 2026

Background: The transcobalamin receptor, encoded by the CD320 gene, mediates the cellular uptake of the transcobalamin–cobalamin complex (vitamin B12). Pathogenic variants in CD320 impair the intracellular transport, resulting in methylmalonic...

(This article belongs to the Section Genetic Diagnosis)
  • Review
  • Open Access
4 Citations
4,452 Views
22 Pages

Despite the development of a wide plethora of different anticancer agents, most of them are not used for patient treatment due to adverse effects caused by untargeted cytotoxicity. To prevent this unwanted toxicity, it is necessary to develop therapi...

(This article belongs to the Special Issue Targeted Therapy of Cancer: Innovative Drugs and Molecular Tools)
  • Article
  • Open Access
17 Citations
5,512 Views
10 Pages

Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter

  • Joseph Boachie,
  • Antonysunil Adaikalakoteswari,
  • Ilona Goljan,
  • Jinous Samavat and ,
  • Felino R. Cagampang and
  • Ponnusamy Saravanan
  • + 1 author+ 0 author

The liver mass constitutes hepatocytes expressing receptors for vitamin B12 (B12)-bound transporters in circulation. However, intrahepatic and circulating B12 interrelationship levels remain unclear. We assessed the intracellular B12 levels at variou...

(This article belongs to the Special Issue Micronutrients in Metabolic Health)
  • Feature Paper
  • Review
  • Open Access
19 Citations
7,776 Views
21 Pages

14 May 2022

Cobalamin or vitamin B12 (B12) is a cofactor for methionine synthase and methylmalonyl-CoA mutase, two enzymes implicated in key pathways for cell proliferation: methylation, purine synthesis, succinylation and ATP production. Ensuring these function...

(This article belongs to the Topic Proteins in Health and Diseases: New Knowledge and Practical Applications)
  • Article
  • Open Access
24 Citations
5,590 Views
14 Pages

Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B12)-Dependent Level of Methylmalonic Acid

  • Anna Koslová,
  • Pavel Trefil,
  • Jitka Mucksová,
  • Veronika Krchlíková and ,
  • Jiří Plachý,
  • Jakub Krijt,
  • Markéta Reinišová,
  • Dana Kučerová,
  • Josef Geryk and
  • Jiří Hejnar
  • + 9 authors+ 4 authors

14 December 2021

The chicken Tva cell surface protein, a member of the low-density lipoprotein receptor family, has been identified as an entry receptor for avian leukosis virus of classic subgroup A and newly emerging subgroup K. Because both viruses represent an im...

(This article belongs to the Special Issue CRISPR/Cas in Viral Research)
  • Article
  • Open Access
15 Citations
4,476 Views
18 Pages

3’-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

  • Tae-Keun Ahn,
  • Jung Oh Kim,
  • Hui Jeong An,
  • Han Sung Park and ,
  • Un Yong Choi,
  • Seil Sohn,
  • Kyoung-Tae Kim,
  • Nam Keun Kim and
  • In-Bo Han
  • + 4 authors+ 0 author

2 June 2020

As life expectancy increases, the prevalence of osteoporosis is increasing. In addition to vitamin D which is well established to have an association with osteoporosis, B vitamins, such as thiamine, folate (vitamin B9), and cobalamin (vitamin B12), c...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
1 Citations
2,839 Views
14 Pages

Cobalamin Status Among Patients with Fetal Alcohol Spectrum Disorder (FASD)—A Preliminary Study

  • Magdalena Król-Dykas,
  • Katarzyna Dyląg,
  • Katarzyna Przybyszewska,
  • Katarzyna Burkot and ,
  • Aleksandra Tokarz,
  • Katarzyna Kowalska,
  • Paulina Dumnicka,
  • Magdalena Kurnik-Łucka,
  • Marta Zarzycka and
  • Krzysztof Gil
  • + 5 authors+ 0 author

23 January 2025

Background/Objectives: Fetal alcohol spectrum disorders comprise a range of neurodevelopmental disorders caused by prenatal alcohol exposure. Recent investigations have revealed that among patients with neurodevelopmental disorders, serum cobalamin (...

(This article belongs to the Section Pediatric Nutrition)