Results 171 to 180 of about 4,222 (186)

T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and Autophagy in Type 1 Diabetes

Journal of Clinical Endocrinology and Metabolism, 2022
Chung-Hsing Wang, Tsung-Hsun Tsai, Pen-Hua Su   +2 more
exaly  

PDHA1 mutations and continued clinical and genetic heterogeneity: Are there gender differences?

Mitochondrion, 2012
Sha Tang, Lisa Emrick, Inn-Chi Lee, Guoli Wang, Fangyuan Li, Shao-Wen Weng, William J. Craigen, Lee-Jun C. Wong   +7 more
openaire   +1 more source

Unraveling the role of PDHA1 in neuroblastoma metastasis

Klinische Pädiatrie
G L Stadler, C Dorneburg, K O Henrich, F Westermann, C Beltinger   +4 more
openaire   +1 more source

Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene

Pediatrics International, 2023
Shunsuke Hayano, Etsuo Naito
exaly  

G.P.3.09 Mutation in PDHA1 gene mimicking a Guillain-Barré-Syndrome

Neuromuscular Disorders, 2008
V. Haug, R. Horvath, R. Horvath, J. Kühr, R. Korinthenberg, J. Kirschner   +5 more
openaire   +1 more source

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit genePDHA1

Human Mutation, 2003
R M Brown, G K Brown, Robyn M Brown
exaly  

Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Clinical Genetics, 2010
M A Vilaseca
exaly  

Sequence variations of PDHA1 gene in Triticeae species allow for identifying wheat-alien introgression lines

Frontiers of Agriculture in China, 2010
Juqing Jia, Guangrong Li, Cheng Liu
exaly  

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

Human Molecular Genetics, 1993
Fumle Takakubo, David R. Thorburn, null Hans-Henrik, M. Dahl   +3 more
openaire   +2 more sources

Expression pattern of PDHA1 and PDHA2 genes in human spermatogenesis

2008
Pinheiro, A., Faustino, I, Silva, M. J., Henrique, D., Sousa, M., Barros, A., Tavares, de Almeida,, Rivera, I   +7 more
openaire   +1 more source