Update on cobalamin, folate, and homocysteine

R Carmel, R Green, DS Rosenblatt… - ASH Education …, 2003 - ashpublications.org
Three topics affecting cobalamin, folate, and homocysteine that have generated interest,
activity, and advances in recent years are discussed. These are:(I) the application of an …

[HTML][HTML] High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and …

BN Ames, I Elson-Schwab, EA Silver - The American journal of clinical …, 2002 - Elsevier
As many as one-third of mutations in a gene result in the corresponding enzyme having an
increased Michaelis constant, or K m,(decreased binding affinity) for a coenzyme, resulting …

Structural basis for molecular recognition of folic acid by folate receptors

C Chen, J Ke, XE Zhou, W Yi, JS Brunzelle, J Li… - Nature, 2013 - nature.com
Folate receptors (FRα, FRβ and FRγ) are cysteine-rich cell-surface glycoproteins that bind
folate with high affinity to mediate cellular uptake of folate. Although expressed at very low …

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview

R Castro, I Rivera, HJ Blom, C Jakobs… - Journal of Inherited …, 2006 - Wiley Online Library
Hyperhomocysteinaemia has been regarded as a new modifiable risk factor for
atherosclerosis and vascular disease. Homocysteine is a branch‐point intermediate of …

Inborn errors of cobalamin absorption and metabolism

D Watkins, DS Rosenblatt - … Journal of Medical Genetics Part C …, 2011 - Wiley Online Library
Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …

[图书][B] Folate in health and disease

LB Bailey - 2009 - taylorfrancis.com
During the fifteen years since the bestselling first edition of Folate in Health and Disease
was published, there have been thousands of new research studies related to folate and its …

Sulfur containing amino acids and human disease

DM Townsend, KD Tew, H Tapiero - Biomedicine & pharmacotherapy, 2004 - Elsevier
Sulfur containing amino acids contribute substantially to the maintenance and integrity of
cellular systems by influencing cellular redox state and cellular capacity to detoxify toxic …

Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation

H Olteanu, R Banerjee - Journal of Biological Chemistry, 2001 - ASBMB
Methionine synthase is a key enzyme in the methionine cycle that catalyzes the
transmethylation of homocysteine to methionine in a cobalamin-dependent reaction that …

Acquired and inherited disorders of cobalamin and folate in children

V Michael Whitehead - British journal of haematology, 2006 - Wiley Online Library
Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the
mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present …

Genetic disorders of vitamin B12 metabolism: eight complementation groups–eight genes

DS Froese, RA Gravel - Expert reviews in molecular medicine, 2010 - cambridge.org
Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic
diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn …