Cryo-EM structure of human lysosomal cobalamin exporter ABCD4

D Xu, Z Feng, WT Hou, YL Jiang, L Wang, L Sun… - Cell Research, 2019 - nature.com
Dear Editor, Cobalamin, also known as vitamin B12, can only be biosynthesized by certain
bacteria and archaea. As an essential nutrient for humans, it should be obtained from daily …

[HTML][HTML] Identification of lysosomal genes associated with prognosis in lung adenocarcinoma

H Li, X Sha, W Wang, Z Huang, P Zhang… - Translational Lung …, 2023 - ncbi.nlm.nih.gov
Background Lung adenocarcinoma (LUAD) is the most common subtype of lung cancer,
representing 40% of all cases of this tumor. Despite immense improvements in …

Insights into severe 5, 10‐methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

P Burda, A Schäfer, T Suormala, T Rummel… - Human …, 2015 - Wiley Online Library
Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited
disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better …

[HTML][HTML] Analysis of 26 amino acids in human plasma by HPLC using AQC as derivatizing agent and its application in metabolic laboratory

G Sharma, SV Attri, B Behra, S Bhisikar, P Kumar… - Amino Acids, 2014 - Springer
The present study reports the simultaneous analysis of 26 physiological amino acids in
plasma along with total cysteine and homocysteine by high-performance liquid …

CLN3 regulates endosomal function by modulating Rab7A–effector interactions

S Yasa, G Modica, E Sauvageau… - Journal of cell …, 2020 - journals.biologists.com
Mutations in CLN3 are a cause of juvenile neuronal ceroid lipofuscinosis (JNCL), also
known as Batten disease. Clinical manifestations include cognitive regression, progressive …

[HTML][HTML] Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis

A Wiedemann, A Oussalah, N Lamireau, M Theron… - Cell Reports …, 2022 - cell.com
Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …

Vitamin B12 Metabolism in Mycobacterium Tuberculosis

K Gopinath, A Moosa, V Mizrahi, DF Warner - Future microbiology, 2013 - Taylor & Francis
Mycobacterium tuberculosis is included among a select group of bacteria possessing the
capacity for de novo biosynthesis of vitamin B12, the largest and most complex natural …

[HTML][HTML] Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?

R Elangovan, J Baruteau - Frontiers in Pharmacology, 2022 - frontiersin.org
Vitamin B12 or cobalamin deficiency is a commonly encountered clinical scenario and most
clinicians will have familiarity prescribing Vitamin B12 to treat their patients. Despite the high …

[HTML][HTML] Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1

K Kawaguchi, T Okamoto, M Morita, T Imanaka - Scientific reports, 2016 - nature.com
We previously demonstrated that ABCD4 does not localize to peroxisomes but rather, the
endoplasmic reticulum (ER), because it lacks the NH2-terminal hydrophilic region required …

Plastic structures for diverse substrates: A revisit of human ABC transporters

WT Hou, D Xu, L Wang, Y Chen… - Proteins: Structure …, 2022 - Wiley Online Library
ATP‐binding cassette (ABC) superfamily is one of the largest groups of primary active
transporters that could be found in all kingdoms of life from bacteria to humans. In humans …