Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo-Reference-Cited by-同舟云学术

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Published:2019-09 Issue:9 Volume:1865 Page:2257-2266
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Roland Bartholomew P.,Richards Kristen R.,Hrizo Stacy L.,Eicher Samantha,Barile Zackery J.,Chang Tien-Chien,Savon Grace,Bianchi Paola,Fermo Elisa,Ricerca Bianca Maria,Tortorolo Luca,Vockley Jerry,VanDemark Andrew P.,Palladino Michael J.

Funder

Achievement Rewards for College Scientists Foundation

National Institutes of Health

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference61 articles.

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4. Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity;Eber;Eur. J. Pediatr.,1991

5. Hereditary triose phosphate isomerase deficiency: seven new homozygous cases;Rosa;Hum. Genet.,1985

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