Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay-Reference-Cited by-同舟云学术

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Published:2017-03-02 Issue:3 Volume:40 Page:385-394
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Reid Emma S., ,Williams Hywel,Anderson Glenn,Benatti Malika,Chong Kling,James Chela,Ocaka Louise,Hemingway Cheryl,Little Daniel,Brown Richard,Parker Alasdair,Holden Simon,Footitt Emma,Rahman Shamima,Gissen Paul,Mills Philippa B.,Clayton Peter T.

Funder

Great Ormond Street Hospital Charity

Wellcome Trust

University College London Impact Award

NIHR BRC at GOSH/UCL ICH

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-017-0025-7.pdf

Reference15 articles.

1. Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P et al (2005) Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. Eur J Pediatr 164:31–36

2. Carpenter AE, Jones TR, Lamprecht MR, Clarke C, Kang IH, Friman O et al (2006) Cell Profiler: image analysis software for identifying and quantifying cell phenotypes. Genome Biol 7(10):R100

3. Cohen R, Basel-Vanagaite L, Goldberg-Stern H, Halevy A, Shuper A, Feingold-Zadok M et al (2014) Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22. Eur J Paediatr Neurol 18(6):801–805

4. Dodson M, Darley-Usmar V, Zhang J (2013) Cellular metabolic and autophagic pathways: traffic control by redox signaling. Free Radic Biol Med 63:207–221

5. Fiermonte G, Palmieri L, Todisco S, Agrimi G, Palmieri F, Walker JE (2002) Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 277(22):19289–19294

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