Literature DB >> 21119539

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

S Balasubramaniam1, Mirjam M C Wamelink, Lock-Hock Ngu, Arni Talib, Gajja S Salomons, Cornelis Jakobs, Wee-Teik Keng.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21119539     DOI： 10.1097/MPG.0b013e3181f50388

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


× No keyword cloud information.
  13 in total

Review 1.  Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.

Authors:  Andras Perl; Robert Hanczko; Tiffany Telarico; Zachary Oaks; Steve Landas
Journal:  Trends Mol Med       Date:  2011-03-02       Impact factor: 11.951

2.  Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

Authors:  Jasmine Lee-Barber; Taylor E English; Jacquelyn F Britton; Nara Sobreira; Jason Goldstein; David Valle; Hans Tomas Bjornsson
Journal:  JIMD Rep       Date:  2018-06-20

Review 3.  Activation of mTOR (mechanistic target of rapamycin) in rheumatic diseases.

Authors:  Andras Perl
Journal:  Nat Rev Rheumatol       Date:  2015-12-24       Impact factor: 20.543

4.  Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Authors:  Aisha M Al-Shamsi; Salma Ben-Salem; Jozef Hertecant; Fatma Al-Jasmi
Journal:  Eur J Pediatr       Date:  2014-11-12       Impact factor: 3.183

5.  Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

Authors:  Charles A Leduc; Elizabeth E Crouch; Ashley Wilson; Jay Lefkowitch; Mirjam M C Wamelink; Cornelis Jakobs; Gajja S Salomons; Xiaoyun Sun; Yufeng Shen; Wendy K Chung
Journal:  JIMD Rep       Date:  2013-10-06

6.  Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Authors:  Wafaa Eyaid; Talal Al Harbi; Shamsa Anazi; Mirjam M C Wamelink; Cornelis Jakobs; Mohammad Al Salammah; Mohammed Al Balwi; Majid Alfadhel; Fowzan S Alkuraya
Journal:  J Inherit Metab Dis       Date:  2013-01-12       Impact factor: 4.982

7.  Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

Authors:  Ehud Banne; Vardiella Meiner; Avraham Shaag; Rachel Katz-Brull; Ayelet Gamliel; Stanley Korman; Smadar Horowitz Cederboim; Morasha Plesser Duvdevani; Ayala Frumkin; Amir Zilkha; Vadim Kapuller; Dan Arbell; Elite Cohen; Smadar Eventov-Friedman
Journal:  JIMD Rep       Date:  2015-08-04

8.  Pulmonary manifestations in a patient with transaldolase deficiency.

Authors:  Nada Jassim; Mohammed Alghaihab; Suhail Al Saleh; Majid Alfadhel; Mirjam M C Wamelink; Wafaa Eyaid
Journal:  JIMD Rep       Date:  2013-07-12

9.  RNA Polymerase II Inhibitor, α-Amanitin, Affects Gene Expression for Gap Junctions and Metabolic Capabilities of Cumulus Cells, but Not Oocyte, during in vitro Mouse Oocyte Maturation.

Authors:  Min-Woo Park; Hyun-Seo Lee; Eun-Young Kim; Kyung-Ah Lee
Journal:  Dev Reprod       Date:  2013-03

Review 10.  The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.

Authors:  Anna Stincone; Alessandro Prigione; Thorsten Cramer; Mirjam M C Wamelink; Kate Campbell; Eric Cheung; Viridiana Olin-Sandoval; Nana-Maria Grüning; Antje Krüger; Mohammad Tauqeer Alam; Markus A Keller; Michael Breitenbach; Kevin M Brindle; Joshua D Rabinowitz; Markus Ralser
Journal:  Biol Rev Camb Philos Soc       Date:  2014-09-22
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.