scholarly journals Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

2012 ◽  
pp. 107-111 ◽  
Author(s):  
Pratibha Singhi ◽  
Linda De Meirleir ◽  
Willy Lissens ◽  
Sunit Singhi ◽  
Arushi Gahlot Saini
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Novel Mutation ◽  
Unusual Presentation

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in theEDARgene

2008 ◽  
Vol 146A (20) ◽  
pp. 2657-2662 ◽  
Author(s):  
Hala Mégarbané ◽  
Céline Cluzeau ◽  
Christine Bodemer ◽  
Sylvie Fraïtag ◽  
Myrna Chababi-Atallah ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Unusual Presentation

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in thepdx1 gene

2003 ◽  
Vol 53 (2) ◽  
pp. 273-277 ◽  
Author(s):  
Runu Dey ◽  
Manuele Mine ◽  
Isabelle Desguerre ◽  
Abdelhamid Slama ◽  
Loic Van Den Berghe ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Pyruvate Dehydrogenase Deficiency

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency

1995 ◽  
Vol 6 (3) ◽  
pp. 274-275 ◽  
Author(s):  
Fumie Takakubo ◽  
David R. Thorburn ◽  
Ruth M. Brown ◽  
Garry K. Brown ◽  
Hans-Henrik M. Dahl
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Novel Mutation

A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1)

1993 ◽  
Vol 2 (11) ◽  
pp. 1961-1962 ◽  
Author(s):  
Fumle Takakubo ◽  
David R. Thorburn ◽  
Hans-Henrik ◽  
M. Dahl
Keyword(s):  
X Chromosome ◽  
Pyruvate Dehydrogenase ◽  
Novel Mutation

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation

2019 ◽  
Vol 41 (3) ◽  
pp. e193-e196 ◽  
Author(s):  
Faten Tinsa ◽  
Manel Ben Romdhane ◽  
Hela Boudabous ◽  
Imen Bel Hadj ◽  
Ines Brini ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Unusual Presentation ◽  
Wolman Disease

scholarly journals The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

2005 ◽  
Vol 25 (8) ◽  
pp. 3286-3294 ◽  
Author(s):  
Mathieu Gabut ◽  
Manuèle Miné ◽  
Cécile Marsac ◽  
Michèle Brivet ◽  
Jamal Tazi ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Pyruvate Dehydrogenase ◽  
Novel Mutation ◽  
Early Death ◽  
Splicing Factor ◽  
Complete Disappearance ◽  
Inherited Disease ◽  
Novel Therapy ◽  
Sr Protein ◽  
Protein Levels

ABSTRACT Pyruvate dehydrogenase (PDH) complex deficiency is a major cause of lactic acidosis and Leigh's encephalomyelopathies in infancy and childhood, resulting in early death in the majority of patients. Most of the molecular defects have been localized in the coding regions of the E1α PDH gene. Recently, we identified a novel mutation of the E1α PDH gene in a patient with an encephalopathy and lactic acidosis. This mutation, located downstream of exon 7, activates a cryptic splice donor and leads to the retention of intronic sequences. Here, we demonstrate that the mutation results in an increased binding of the SR protein SC35. Consistently, ectopic overexpression of this splicing factor enhanced the use of the cryptic splice site, whereas small interfering RNA-mediated reduction of the SC35 protein levels in primary fibroblasts from the patient resulted in the almost complete disappearance of the aberrantly spliced E1α PDH mRNA. Our findings open the exciting prospect for a novel therapy of an inherited disease by altering the level of a specific splicing factor.

Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency

2010 ◽  
Vol 52 (4) ◽  
pp. e181-e183 ◽  
Author(s):  
Satoshi Sato ◽  
Hiroaki Ioi ◽  
Yasuyo Kashiwagi ◽  
Hisashi Kawashima ◽  
Tasuku Miyajima ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Novel Mutation ◽  
Pyruvate Dehydrogenase Complex ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex
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