Literature DB >> 7200213

Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.

S Sorbi, J P Blass.   

Abstract

Incubation with dichloroacetate increased activity of the pyruvate dehydrogenase complex (PDHC) in disrupted fibroblasts from controls but not from two patients with autopsy-proved Leigh disease. These results are consistent with a genetically determined aberration of the regulation of PDHC in this disorder, although further studies are necessary to define the aberration.

Entities:  

Mesh：

Substances：

Year:  1982        PMID： 7200213     DOI： 10.1212/wnl.32.5.555

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  8 in total

1.  Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

Authors:  S Miyabayashi; T Ito; K Narisawa; K Iinuma; K Tada
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

Review 2.  Disorders of the pyruvate dehydrogenase complex.

Authors:  D Stansbie; S J Wallace; C Marsac
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 3.  Thiamine in excitable tissues: reflections on a non-cofactor role.

Authors:  L Bettendorff
Journal:  Metab Brain Dis       Date:  1994-09       Impact factor: 3.584

4.  Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.

Authors:  P M van Erven; F J Gabreëls; W Ruitenbeek; W O Renier; K J Lamers; J L Sloof
Journal:  J Neurol       Date:  1987-05       Impact factor: 4.849

5.  Lactic acidaemia.

Authors:  B H Robinson; W G Sherwood
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Familial dystonia and visual failure with striatal CT lucencies.

Authors:  C D Marsden; A E Lang; N P Quinn; W I McDonald; A Abdallat; S Nimri
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-05       Impact factor: 10.154

7.  A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Authors:  Jirair K Bedoyan; Leah Hecht; Shulin Zhang; Stacey Tarrant; Ann Bergin; Didem Demirbas; Edward Yang; Ha Kyung Shin; George J Grahame; Suzanne D DeBrosse; Charles L Hoppel; Douglas S Kerr; Gerard T Berry
Journal:  JIMD Rep       Date:  2019-06-17

8.  Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.

Authors:  Alejandra I Romero-Morales; Gabriella L Robertson; Anuj Rastogi; Megan L Rasmussen; Hoor Temuri; Gregory Scott McElroy; Ram Prosad Chakrabarty; Lawrence Hsu; Paula M Almonacid; Bryan A Millis; Navdeep S Chandel; Jean-Philippe Cartailler; Vivian Gama
Journal:  Development       Date:  2022-07-06       Impact factor: 6.862
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.