Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism

JL Guéant, RM Guéant-Rodriguez… - Critical reviews in …, 2022 - Taylor & Francis
Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …

Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation

DS Froese, B Fowler… - Journal of inherited …, 2019 - Wiley Online Library
Abstract Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its
complex structure and dual cofactor forms, Cbl undergoes a complicated series of …

[PDF][PDF] Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency

A Wilson, D Leclerc, F Saberi, E Campeau… - The American Journal of …, 1998 - cell.com
Methionine synthase (MS) catalyses the methylation of homocysteine to methionine and
requires the vitamin B 12 derivative, methylcobalamin, as cofactor. We and others have …

[HTML][HTML] Demonstration that mammalian methionine synthases are predominantly cobalamin-loaded

Z Chen, S Chakraborty, R Banerjee - Journal of Biological Chemistry, 1995 - ASBMB
Methionine synthase is an important cellular housekeeping enzyme and is dependent on
the cofactor cobalamin, a derivative of vitamin B 12, for activity. It functions in two major …

[PDF][PDF] Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation …

D Watkins, M Ru, HY Hwang, CD Kim, A Murray… - The American Journal of …, 2002 - cell.com
Mutations in the MTR gene, which encodes methionine synthase on human chromosome
1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by …

Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

D Leclerc, E Campeau, P Goyette… - Human molecular …, 1996 - academic.oup.com
Methionine synthase catalyzes the remethylation of homocysteine to methionine in a
methylcobalamin-dependent reaction. We used specific regions of homology within the …

Methionine synthase deficiency: variable clinical presentation and benefit of early diagnosis and treatment

KA Kripps, L Sremba, AA Larson… - Journal of inherited …, 2022 - Wiley Online Library
Methionine synthase deficiency (cblG complementation group) is a rare inborn error of
metabolism affecting the homocysteine re‐methylation pathway. It leads to a biochemical …

[HTML][HTML] Redundancy in the pathway for redox regulation of mammalian methionine synthase: reductive activation by the dual flavoprotein, novel reductase 1

H Olteanu, R Banerjee - Journal of Biological Chemistry, 2003 - ASBMB
Methionine synthase is an essential cobalamin-dependent enzyme in mammals that
catalyzes the transfer of a methyl group from methyltetrahydrofolate to homocysteine to give …

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

R Ghemrawi, C Arnold, SF Battaglia-Hsu, G Pourié… - Metabolism, 2019 - Elsevier
Background The molecular consequences of inborn errors of vitamin B12 or cobalamin
metabolism are far from being understood. Moreover, innovative therapeutic strategies are …

Cobalamin‐dependent methionine synthase

RV Banerjee, RG Matthews - The FASEB journal, 1990 - Wiley Online Library
Cobalamin‐dependent methionine synthase catalyzes the transfer of a methyl group from
N5‐methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine …