Sally P. Stabler

Expert Perspectives on Diagnosis and Management of Vitamin B12 Deficiency in Adults

Jean‐Louis Guéant, David Alpers, Lindsay H. Allen, Emmanuel Andres et autres

There is no universally-accepted definition of vitamin B 12 deficiency despite the severity of its medical consequences if not properly diagnosed and treated. B 12 deficiency can arise either from inadequate dietary intake, in particular in vegans/vegetarians, or various causes of impaired …

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Dietary folic acid prevents peripheral neuropathy in mouse models of neural tube defects and type 2 diabetes

Joydeep Chakraborty, Adhideb Ghosh, Eunice B Awuah, Sally P. Stabler et autres

Folate-mediated one-carbon metabolism is implicated in several pathologies including neural tube defects (NTDs), cancer, and neurodegenerative disorders, whereas diabetes is associated with NTDs and peripheral neuropathy (PN). The development of peripheral neuropathy was assessed in Shmt1 +/− and Shmt1 −/− mice, which …

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Dysregulation of hepatic one‐carbon metabolism in classical homocystinuria: Implications of redox‐sensitive DHFR repression and tetrahydrofolate depletion for pathogenesis and treatment

Kenneth N. Maclean, Philip D. Neill, Ryan R. Chanin, K. Joseph Hurt et autres

Abstract Cystathionine beta‐synthase‐deficient homocystinuria (HCU) is a life‐threatening disorder of sulfur metabolism. HCU can be treated by using betaine to lower tissue and plasma levels of homocysteine (Hcy). Here, we show that mice with severely elevated Hcy and potentially deficient in the …

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Reduced methionine synthase expression results in uracil accumulation in mitochondrial DNA and impaired oxidative capacity

Katarina E. Heyden, Joanna L. Fiddler, Yuwen Xiu, Olga V. Malysheva et autres

Abstract Adequate thymidylate [deoxythymidine monophosphate (dTMP) or the “T” base in DNA] levels are essential for stability of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Folate and vitamin B12 (B12) are essential cofactors in folate-mediated one-carbon metabolism (FOCM), a metabolic network which …

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Reduced methionine synthase ( Mtr ) expression creates a functional vitamin B12 deficiency that leads to uracil accumulation in mouse mitochondrial DNA

Katarina E. Heyden, Joanna L. Fiddler, Yuwen Xiu, Olga V. Malysheva et autres

Abstract Adequate thymidylate (dTMP or the “T” base in DNA) levels are essential for stability of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Folate and vitamin B12 (B12) are essential cofactors in folate-mediated one carbon metabolism (FOCM), a metabolic network which supports …

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Reduced Shmt2 Expression Impairs Mitochondrial Folate Accumulation and Respiration, and Leads to Uracil Accumulation in Mouse Mitochondrial DNA

Joanna L. Fiddler, Yuwen Xiu, Jamie Blum, Simon G. Lamarre et autres

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Reduced Shmt2 expression impairs mitochondrial folate accumulation and respiration, and leads to uracil accumulation in mouse mitochondrial DNA

Joanna L. Fiddler, Yuwen Xiu, Jamie Blum, Simon G. Lamarre et autres

ABSTRACT Background Adequate cellular thymidylate (dTMP) pools are essential for preservation of nuclear and mitochondrial genome stability. Previous studies have indicated that disruption in dTMP synthesis in the nucleus leads to increased uracil misincorporation into DNA affecting genome stability. To date, the …

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Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis

Kenneth N. Maclean, Hua Jiang, Whitney N. Phinney, Bailey M. Mclagan et autres

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Cystathionine γ-lyase promotes estrogen-stimulated uterine artery blood flow via glutathione homeostasis

Rachael Bok, Damian D. Guerra, Ramón A. Lorca, Sara A. Wennersten et autres

During pregnancy, estrogen (E2) stimulates uterine artery blood flow (UBF) by enhancing nitric oxide (NO)-dependent vasodilation. Cystathionine γ-lyase (CSE) promotes vascular NO signaling by producing hydrogen sulfide (H2S) and by maintaining the ratio of reduced-to-oxidized intracellular glutathione (GSH/GSSG) through l-cysteine production. Because …

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Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshop

Padma Maruvada, Patrick J. Stover, Joel B. Mason, Regan Lucas Bailey et autres

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Specific patterns of H3K79 methylation influence genetic interaction of oncogenes in AML

Molly C. Kingsley, Hongbo Michael Xie, Bo-Rui Chen, Simone Stefanie Riedel et autres

Understanding mechanisms of cooperation between oncogenes is critical for the development of novel therapies and rational combinations. Acute myeloid leukemia (AML) cells with KMT2A-fusions and KMT2A partial tandem duplications (KMT2APTD) are known to depend on the histone methyltransferase DOT1L, which methylates histone …

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Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism

Viktor Kožich, Sally P. Stabler

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