Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency (Q34275004)

1 August 2017

title

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency (English)

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1 August 2017

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M. Grapp

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A22586289

1 January 2025

I. A. Just

2

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1 January 2025

T. Linnankivi

3

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1 January 2025

P. Wolf

4

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1 January 2025

T. Lücke

5

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1 January 2025

M. Häusler

6

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1 January 2025

J. Gärtner

7

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R. Steinfeld

8

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1 January 2025

publication date

13 May 2012

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1 August 2017

language of work or name

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1 August 2017

volume

135

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1 August 2017

issue

Pt 7

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1 August 2017

page(s)

2022-2031

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Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

1 August 2017

cites work

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

21 January 2018

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

21 January 2018

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Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

21 January 2018

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Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

21 January 2018

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The molecular basis of glutamate formiminotransferase deficiency

21 January 2018

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Cerebral folate deficiency

21 January 2018

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POLG1 manifestations in childhood

21 January 2018

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A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro

21 January 2018

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Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

21 January 2018

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Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

21 January 2018

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Cerebral folate deficiency: a neurometabolic syndrome?

21 January 2018

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Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

21 January 2018

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Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption

21 January 2018

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Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

21 January 2018

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Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

21 January 2018

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A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis

21 January 2018

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Point mutations alter the cellular distribution of the human folate receptor in cultured Chinese hamster ovary cells

21 January 2018

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Distribution of the folate receptor GP38 in normal and malignant cell lines and tissues

1 January 2025

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Cellular localization of the folate receptor: potential role in drug toxicity and folate homeostasis

1 January 2025

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1 January 2025

Identifiers

DOI

10.1093/BRAIN/AWS122

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1 August 2017

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