Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease-Reference-Cited by-同舟云学术

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Published:2017-02-10 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Tarailo-Graovac Maja,Drögemöller Britt I.,Wasserman Wyeth W.,Ross Colin J. D.,van den Ouweland Ans M. W.,Darin Niklas,Kollberg Gittan,van Karnebeek Clara D. M.,Blomqvist Maria

Funder

BC Children’s Hospital Foundation

Canadian Institutes of Health Research

Genome BC and Genome Canada

Michael Smith Foundation for Health Research

CIHR New Investigator award

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0584-6.pdf

Reference35 articles.

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2. Wreden CC, Wlizla M, Reimer RJ. Varied mechanisms underlie the free sialic acid storage disorders. J Biol Chem. 2005;280:1408–16.

3. Courville P, Quick M, Reimer RJ. Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes. J Biol Chem. 2010;285:19316–23.

4. Reimer RJ, Edwards RH. Organic anion transport is the primary function of the SLC17/type I phosphate transporter family. Pflugers Arch. 2004;447:629–35.

5. Aula P, Autio S, Raivio KO, Rapola J, Thoden CJ, Koskela SL, et al. “Salla disease”: a new lysosomal storage disorder. Arch Neurol. 1979;36:88–94.

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