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Page 1
The Concept of Folic Acid in Health and Disease.
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V. Shulpekova Y, et al. Molecules. 2021 Jun 18;26(12):3731. doi: 10.3390/molecules26123731. Molecules. 2021. PMID: 34207319 Free PMC article. Review.
Severe folate deficiencies, manifesting in early life, are seen in hereditary folate malabsorption and cerebral folate deficiency. Acquired folate deficiency is quite common and is associated with poor diet and malabsorption, alcohol consumption, obesity, and …
Severe folate deficiencies, manifesting in early life, are seen in hereditary folate malabsorption and cerebral folate …
Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.
Watkins D, Rosenblatt DS. Watkins D, et al. Curr Opin Clin Nutr Metab Care. 2020 Jul;23(4):241-246. doi: 10.1097/MCO.0000000000000668. Curr Opin Clin Nutr Metab Care. 2020. PMID: 32412981 Review.
RECENT FINDINGS: There is little evidence that immune function is affected in most of the disorders. Exceptions are Imerslund-Grasbeck syndrome and hereditary folate malabsorption (affecting intestinal absorption of cobalamin and folate, respectively), transc …
RECENT FINDINGS: There is little evidence that immune function is affected in most of the disorders. Exceptions are Imerslund-Grasbeck syndr …
Child Neurology: Hereditary Folate Malabsorption.
Huddar A, Chiplunkar S, Nagappa M, Govindaraj P, Sinha S, Taly AB, Sankaran BP. Huddar A, et al. Neurology. 2021 Jul 6;97(1):40-43. doi: 10.1212/WNL.0000000000012083. Epub 2021 Apr 23. Neurology. 2021. PMID: 33893200 No abstract available.
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
Zhao R, Aluri S, Goldman ID. Zhao R, et al. Mol Aspects Med. 2017 Feb;53:57-72. doi: 10.1016/j.mam.2016.09.002. Epub 2016 Sep 21. Mol Aspects Med. 2017. PMID: 27664775 Free PMC article. Review.
Loss of PCFT function, as occurs in the autosomal recessive disorder "hereditary folate malabsorption" (HFM), results in a syndrome characterized by severe systemic and cerebral folate deficiency. ...
Loss of PCFT function, as occurs in the autosomal recessive disorder "hereditary folate malabsorption" (HFM), results i …
Biology and therapeutic applications of the proton-coupled folate transporter.
Matherly LH, Schneider M, Gangjee A, Hou Z. Matherly LH, et al. Expert Opin Drug Metab Toxicol. 2022 Oct;18(10):695-706. doi: 10.1080/17425255.2022.2136071. Epub 2022 Oct 20. Expert Opin Drug Metab Toxicol. 2022. PMID: 36239195 Free PMC article.
INTRODUCTION: The proton-coupled folate transporter (PCFT; SLC46A1) was discovered in 2006 as the principal mechanism by which folates are absorbed in the intestine and the causal basis for hereditary folate malabsorption (HFM). In 2011, it was found that PCF …
INTRODUCTION: The proton-coupled folate transporter (PCFT; SLC46A1) was discovered in 2006 as the principal mechanism by which folates are a …
A proton-coupled folate transporter mutation causing hereditary folate malabsorption locks the protein in an inward-open conformation.
Zhan HQ, Najmi M, Lin K, Aluri S, Fiser A, Goldman ID, Zhao R. Zhan HQ, et al. J Biol Chem. 2020 Nov 13;295(46):15650-15661. doi: 10.1074/jbc.RA120.014757. Epub 2020 Sep 6. J Biol Chem. 2020. PMID: 32893190 Free PMC article.
The proton-coupled folate transporter (PCFT, SLC46A1) is required for folate intestinal absorption and transport across the choroid plexus. Recent work has identified a F392V mutation causing hereditary folate malabsorption. However, the residue properties re …
The proton-coupled folate transporter (PCFT, SLC46A1) is required for folate intestinal absorption and transport across the choroid plexus. …
The evolving biology of the proton-coupled folate transporter: New insights into regulation, structure, and mechanism.
Hou Z, Gangjee A, Matherly LH. Hou Z, et al. FASEB J. 2022 Feb;36(2):e22164. doi: 10.1096/fj.202101704R. FASEB J. 2022. PMID: 35061292 Free PMC article. Review.
The human proton-coupled folate transporter (PCFT; SLC46A1) or hPCFT was identified in 2006 as the principal folate transporter involved in the intestinal absorption of dietary folates. A rare autosomal recessive hereditary folate malabsorption syndrome is at …
The human proton-coupled folate transporter (PCFT; SLC46A1) or hPCFT was identified in 2006 as the principal folate transporter involved in …
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.
Lubout CMA, Goorden SMI, van den Hurk K, Jaeger B, Jager NGL, van Koningsbruggen S, Chegary M, van Karnebeek CDM. Lubout CMA, et al. Pediatr Neurol. 2020 Jan;102:62-66. doi: 10.1016/j.pediatrneurol.2019.06.009. Epub 2019 Jun 22. Pediatr Neurol. 2020. PMID: 31371121
BACKGROUND: Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary folate malabsorption is treated with folinic acid, aimed to restore bl …
BACKGROUND: Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding t …
An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report.
Sakurai Y, Toriumi N, Sarashina T, Ishioka T, Nagata M, Kobayashi H, Azuma H. Sakurai Y, et al. J Med Case Rep. 2022 Jun 30;16(1):268. doi: 10.1186/s13256-022-03448-x. J Med Case Rep. 2022. PMID: 35773682 Free PMC article.
BACKGROUND: Hereditary folate malabsorption-a rare disorder caused by impairment of the folate transporter-can develop into severe folate deficiency manifesting as megaloblastic anemia and occasionally thrombocytopenia. ...Genetic investigation revealed a mut …
BACKGROUND: Hereditary folate malabsorption-a rare disorder caused by impairment of the folate transporter-can develop …
Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1.
Aluri S, Zhao R, Lubout C, Goorden SMI, Fiser A, Goldman ID. Aluri S, et al. Blood Adv. 2018 Jan 5;2(1):61-68. doi: 10.1182/bloodadvances.2017012690. eCollection 2018 Jan 9. Blood Adv. 2018. PMID: 29344585 Free PMC article.
Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport across the choroid plexus due to loss of function of the proton-coupled folate transporter (PCFT-SLC4 …
Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate ab …
22 results