(Q28247535)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

biotin-responsive basal ganglia disease

25 December 2019

main subject

basal ganglia

0 references

0 references

author

Jonathan S Marchant

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Veedamali S Subramanian

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hamid M Said

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

21 June 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Physiology - Cell Physiology

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

291

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

C851-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16790503%20AND%20SRC:MED&resulttype=core&format=json

Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity

25 December 2019

cites work

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Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis

21 January 2018

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Thiamine-responsive anemia in DIDMOAD syndrome

21 January 2018

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21 January 2018

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Polarized expression of the GFP-tagged rat V(1a) vasopressin receptor

21 January 2018

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Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

21 January 2018

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Cloning of the human thiamine transporter, a member of the folate transporter family

21 January 2018

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21 January 2018

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The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Structure and mechanism of the glycerol-3-phosphate transporter from Escherichia coli

21 January 2018

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21 January 2018

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Human cystine/glutamate transporter: cDNA cloning and upregulation by oxidative stress in glioma cells

21 January 2018

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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

21 January 2018

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Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

21 January 2018

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21 January 2018

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Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.

21 January 2018

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Biotin-responsive basal ganglia disease: a novel entity

21 January 2018

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21 January 2018

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21 January 2018

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SLC19A3 encodes a second thiamine transporter ThTr2

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

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