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Items: 16

Select item 113516341.

Regulation of folate transport at the mouse arachnoid barrier

Vishal Sangha, Sara Aboulhassane, Reina Bendayan

Fluids Barriers CNS. 2024; 21: 67. Published online 2024 Aug 27. doi: 10.1186/s12987-024-00566-0

PMCID:: PMC11351634

Abstract Article PDF–1.9M

Select item 109959452.

Parallel Metabolomics and Lipidomics of a PSMA/GCPII Deficient Mouse Model Reveal Alteration of NAAG Levels and Brain Lipid Composition

František Sedlák, Aleš Kvasnička, Barbora Marešová, Radana Brumarová, Dana Dobešová, Kateřina Dostálová, Karolína Šrámková, Martin Pehr, Pavel Šácha, David Friedecký, Jan Konvalinka

ACS Chem Neurosci. 2024 Apr 3; 15(7): 1342–1355. Published online 2024 Feb 20. doi: 10.1021/acschemneuro.3c00494

PMCID:: PMC10995945

Abstract Article PDF–4.7M

Select item 93701233.

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

Vincent Th. Ramaekers, Edward V. Quadros

Nutrients. 2022 Aug; 14(15): 3096. Published online 2022 Jul 28. doi: 10.3390/nu14153096

PMCID:: PMC9370123

Abstract Article PDF–2.3M

Select item 78958564.

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei

J Med Genet. 2021 Jul; 58(7): 484–494. Published online 2020 Aug 20. doi: 10.1136/jmedgenet-2020-106987

PMCID:: PMC7895856

Abstract Article PDF–3.5M

Select item 76911025.

First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin, Jing Peng

BMC Med Genet. 2020; 21: 235. Published online 2020 Nov 26. doi: 10.1186/s12881-020-01162-3

PMCID:: PMC7691102

Abstract Article PDF–839K

Select item 65574386.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Lance H. Rodan, Wanshu Qi, Gregory S. Ducker, Didem Demirbas, Regina Laine, Edward Yang, Melissa A. Walker, Florian Eichler, Joshua D. Rabinowitz, Irina Anselm, Gerard T. Berry

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 118–126. Published online 2018 Jun 15. doi: 10.1016/j.ymgme.2018.06.006

PMCID:: PMC6557438

Abstract Article PDF–1.3M

Select item 51110057.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131

PMCID:: PMC5111005

Abstract Article PDF–2.0M

Select item 47276718.

Diagnosis and management of cerebral folate deficiency: A form of folinic acid-responsive seizures

Raidah S. Al-Baradie, Mohammed W. Chudary

Neurosciences (Riyadh) 2014 Oct; 19(4): 312–316.

PMCID:: PMC4727671

Abstract Article PDF–497K

Select item 38852369.

MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION

Berna Atabay, Meral Turker, Esra Arun Ozer, Kris Mahadeo, Ndeye Diop-Bove, I. David Goldman

Pediatr Hematol Oncol. Author manuscript; available in PMC 2014 Jan 8.

Published in final edited form as: Pediatr Hematol Oncol. 2010 Nov; 27(8): 10.3109/08880018.2010.481705. doi: 10.3109/08880018.2010.481705

PMCID:: PMC3885236

Abstract Article PDF–104K

Select item 383660410.

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

N Diop-Bove, M. Jain, F. Scaglia, I.D. Goldman

Gene. Author manuscript; available in PMC 2014 Sep 25.

Published in final edited form as: Gene. 2013 Sep 25; 527(2): 10.1016/j.gene.2013.06.039. Published online 2013 Jun 28. doi: 10.1016/j.gene.2013.06.039

PMCID:: PMC3836604

Abstract Article PDF–31K

Select item 308193411.

Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption

Daniel Sanghoon Shin, Kris Mahadeo, Sang Hee Min, Ndeye Diop-Bove, Peter Clayton, Rongbao Zhao, I. David Goldman

Mol Genet Metab. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Mol Genet Metab. 2011 May; 103(1): 33–37. Published online 2011 Jan 25. doi: 10.1016/j.ymgme.2011.01.008

PMCID:: PMC3081934

Abstract Article PDF–576K

Select item 303570712.

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Siddharth Banka, Henk J. Blom, John Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian I. Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

Am J Hum Genet. 2011 Feb 11; 88(2): 216–225. doi: 10.1016/j.ajhg.2011.01.004

PMCID:: PMC3035707

Abstract Article PDF–969K

Select item 303570613.

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl-Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, Elisabeth Kohne, Klaus-Michael Debatin, Yvo Smulders, Klaus Schwarz

Am J Hum Genet. 2011 Feb 11; 88(2): 226–231. doi: 10.1016/j.ajhg.2011.01.007