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Items: 19

1.
Structural basis of antifolate recognition and transport by PCFT
Joanne L. Parker, Justin C. Deme, Gabriel Kuteyi, Zhiyi Wu, Jiandong Huo, I. David Goldman, Raymond J. Owens, Philip C. Biggin, Susan M. Lea, Simon Newstead
Nature. Author manuscript; available in PMC 2023 Mar 7.
Published in final edited form as: Nature. 2021 Jul; 595(7865): 130–134. Published online 2021 May 26. doi: 10.1038/s41586-021-03579-z
PMCID:
PMC9990147
AbstractArticlePDF–4.1M
2.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
3.
A proton-coupled folate transporter mutation causing hereditary folate malabsorption locks the protein in an inward-open conformation
He-Qin Zhan, Mitra Najmi, Kai Lin, Srinivas Aluri, Andras Fiser, I. David Goldman, Rongbao Zhao
J Biol Chem. 2020 Nov 13; 295(46): 15650–15661. Published online 2020 Sep 6. doi: 10.1074/jbc.RA120.014757
PMCID:
PMC7667981
AbstractArticlePDF–2.3M
4.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
5.
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases
Emanuela Manea, Paul Gissen, Simon Pope, Simon J. Heales, Spyros Batzios
JIMD Rep. 2018; 39: 7–12. Published online 2017 Jul 7. doi: 10.1007/8904_2017_39
PMCID:
PMC5953899
AbstractArticlePDF–239K
6.
Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report
Jianmin Tan, Xiujuan Li, Yi Guo, Lingling Xie, Juan Wang, Jiannan Ma, Li Jiang
Medicine (Baltimore) 2017 Dec; 96(50): e8712. Published online 2017 Dec 15. doi: 10.1097/MD.0000000000008712
PMCID:
PMC5815676
AbstractArticlePDF–364K
7.
Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1
Srinivas Aluri, Rongbao Zhao, Charlotte Lubout, Susanna M. I. Goorden, Andras Fiser, I. David Goldman
Blood Adv. 2018 Jan 9; 2(1): 61–68. Published online 2018 Jan 5. doi: 10.1182/bloodadvances.2017012690
PMCID:
PMC5761628
AbstractArticlePDF–1.2M
8.
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
Rongbao Zhao, Srinivas Aluri, I. David Goldman
Mol Aspects Med. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Mol Aspects Med. 2017 Feb; 53: 57–72. Published online 2016 Sep 21. doi: 10.1016/j.mam.2016.09.002
PMCID:
PMC5253092
AbstractArticlePDF–1.7M
9.
Experimentally optimized threading structures of the proton‐coupled folate transporter
Swapneeta S. Date, Cheng‐Yen Charles Chen, Yidong Chen, Michaela Jansen
FEBS Open Bio. 2016 Mar; 6(3): 216–230. Published online 2016 Feb 22. doi: 10.1002/2211-5463.12041
PMCID:
PMC4794783
AbstractArticlePDF–1.5M
10.
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
A. Torres, S. A. Newton, B. Crompton, A. Borzutzky, E. J. Neufeld, L. Notarangelo, G. T. Berry
JIMD Rep. 2015; 24: 91–96. Published online 2015 May 26. doi: 10.1007/8904_2015_445
PMCID:
PMC4582027
AbstractArticlePDF–161K
11.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
12.
The Intestinal Absorption of Folates
Michele Visentin, Ndeye Diop-Bove, Rongbao Zhao, I. David Goldman
Annu Rev Physiol. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Annu Rev Physiol. 2014; 76: 251–274. doi: 10.1146/annurev-physiol-020911-153251
PMCID:
PMC3982215
AbstractArticlePDF–1.2M
13.
Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico
Kris M. Mahadeo, Ndeye Diop-Bove, Sonia I. Ramirez, Carmen L. Cadilla, Enid Rivera, Madelena Martin, Norma B. Lerner, Lisa DiAntonio, Salvatore Duva, Pedro J. Santiago-Borrero, I. David Goldman
J Pediatr. Author manuscript; available in PMC 2014 Feb 26.
Published in final edited form as: J Pediatr. 2011 Oct; 159(4): 623–7.e1. Published online 2011 Apr 13. doi: 10.1016/j.jpeds.2011.03.005
PMCID:
PMC3935241
AbstractArticlePDF–165K
14.
Mechanisms of Membrane Transport of Folates into Cells and Across Epithelia
Rongbao Zhao, Ndeye Diop-Bove, Michele Visentin, I. David Goldman
Annu Rev Nutr. Author manuscript; available in PMC 2014 Jan 8.
Published in final edited form as: Annu Rev Nutr. 2011 Aug 21; 31: 10.1146/annurev-nutr-072610-145133. doi: 10.1146/annurev-nutr-072610-145133
PMCID:
PMC3885234
AbstractArticlePDF–1.0M
15.
The clinical course and genetic defect in the PCFT gene in a 27-year old woman with hereditary folate malabsorption
Sang Hee Min, Sun Young Oh, George I. Karp, Mortimer Poncz, Rongbao Zhao, I. David Goldman
J Pediatr. Author manuscript; available in PMC 2013 Nov 20.
Published in final edited form as: J Pediatr. 2008 Sep; 153(3): 10.1016/j.jpeds.2008.04.009. doi: 10.1016/j.jpeds.2008.04.009
PMCID:
PMC3835188
AbstractArticlePDF–251K
16.
Delineating the Extracellular Water-Accessible Surface of the Proton-Coupled Folate Transporter
Phaneendra Kumar Duddempudi, Raman Goyal, Swapneeta Sanjay Date, Michaela Jansen
PLoS One. 2013; 8(10): e78301. Published online 2013 Oct 18. doi: 10.1371/journal.pone.0078301
PMCID:
PMC3799626
AbstractArticlePDF–2.6M
17.
Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes
D. Sean Froese, Roy A. Gravel
Expert Rev Mol Med. 2010 Nov; 12: e37. Published online 2010 Nov. doi: 10.1017/S1462399410001651
PMCID:
PMC2995210
AbstractArticlePDF–911K
18.
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption
Kris Mahadeo, Ndeye Diop-Bove, Daniel Shin, Ersin Selcuk Unal, Juliana Teo, Rongbao Zhao, Min-Hwang Chang, Andreas Fulterer, Michael F. Romero, I. David Goldman
Am J Physiol Cell Physiol. 2010 Nov; 299(5): C1153–C1161. Published online 2010 Aug 4. doi: 10.1152/ajpcell.00113.2010
PMCID:
PMC2980313
AbstractArticle
19.
Membrane topological analysis of the proton-coupled folate transporter (PCFT-SLC46A1) by the substituted cysteine accessibility method
Rongbao Zhao, Ersin Selcuk Unal, Daniel Sanghoon Shin, I. David Goldman
Biochemistry. Author manuscript; available in PMC 2011 Apr 6.
Published in final edited form as: Biochemistry. 2010 Apr 6; 49(13): 2925–2931. doi: 10.1021/bi9021439
PMCID:
PMC2866095
AbstractArticlePDF–1.5M

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