Literature DB >> 20018644

Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.

H Cario1, H Bode, K-M Debatin, T Opladen, K Schwarz.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 20018644     DOI: 10.1212/WNL.0b013e3181c679df

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  20 in total

1.  Determinants of the activities of antifolates delivered into cells by folate-receptor-mediated endocytosis.

Authors:  Rongbao Zhao; Michele Visentin; I David Goldman
Journal:  Cancer Chemother Pharmacol       Date:  2015-04-07       Impact factor: 3.333

2.  Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Authors:  Ivan Karin; Ingo Borggraefe; Claudia B Catarino; Christoph Kuhm; Konstanze Hoertnagel; Saskia Biskup; Thomas Opladen; Nenad Blau; Florian Heinen; Thomas Klopstock
Journal:  J Neurol       Date:  2017-01-04       Impact factor: 4.849

Review 3.  Mechanisms of membrane transport of folates into cells and across epithelia.

Authors:  Rongbao Zhao; Ndeye Diop-Bove; Michele Visentin; I David Goldman
Journal:  Annu Rev Nutr       Date:  2011-08-21       Impact factor: 11.848

Review 4.  The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Authors:  Rongbao Zhao; Srinivas Aluri; I David Goldman
Journal:  Mol Aspects Med       Date:  2016-09-21

5.  Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.

Authors:  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
Journal:  Am J Physiol Cell Physiol       Date:  2010-08-04       Impact factor: 4.249

Review 6.  Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

Authors:  David Watkins; David S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  2011-11-23       Impact factor: 4.982

Review 7.  The major facilitative folate transporters solute carrier 19A1 and solute carrier 46A1: biology and role in antifolate chemotherapy of cancer.

Authors:  Larry H Matherly; Mike R Wilson; Zhanjun Hou
Journal:  Drug Metab Dispos       Date:  2014-01-06       Impact factor: 3.922

8.  Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.

Authors:  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
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

9.  Functional regulation of P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter (PCFT) mutant mice.

Authors:  Xueqian Wang; Robert M Cabrera; Yue Li; David S Miller; Richard H Finnell
Journal:  FASEB J       Date:  2012-12-04       Impact factor: 5.191

Review 10.  Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.

Authors:  Rongbao Zhao; I David Goldman
Journal:  Mol Aspects Med       Date:  2013 Apr-Jun
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.