Results 11 to 20 of about 47,907 (257)

Next Generation AAV-F Capsid gene therapy rescues disease pathology in a model of Pyruvate Dehydrogenase Complex Deficiency

bioRxiv
Abstract Pyruvate dehydrogenase complex deficiency (PDHD) is a severe mitochondrial disorder most frequently caused by pathogenic variants in PDHA1, leading to neurodevelopmental delay and early mortality, necessitating brain-targeted interventions.
Keegan A, Cetin O, Chilcott EM, Antinao Diaz J, Eaton S, Waddington SN, Counsell JR, Rahman S, Karda R.   +8 more
europepmc   +3 more sources

Pyruvate dehydrogenase complex deficiency disease is connected to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase [PDF]

Acta Crystallographica Section A Foundations and Advances, 2018
The pyruvate dehydrogenase multienzyme complex (PDHc) connects glycolysis to the tricarboxylic acid cycle by producing acetyl-coenzyme A via the decarboxylation of pyruvate.
Matthew J. Whitley, Palaniappa Arjunan, Natalia S. Nemeria, Mulchand S. Patel, Frank Jordan, William Furey   +5 more
openaire   +2 more sources

Pyruvate dehydrogenase complex deficiency – a rare mitochondrial disease in a 4-year-old boy

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2020
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of neurometabolic manifestations. The disease is caused by insuffici ency of this multienzyme complex, which ensures the integration of pyruvate (the carbohydrate metabolism product) into the cellular energy metabolism.
S. Ya. Volgina, Ch. D. Khaliullina, E. A. Nikolaeva, R. M. Sayfullina, A. R. Shakirova   +4 more
openaire   +3 more sources

Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's disease

Journal of Pediatric Neurosciences, 2017
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease.
Jauhari, Prashant, Sankhyan, Naveen, Vyas, Sameer, Singhi, Pratibha   +3 more
openaire   +4 more sources

Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging

Proceedings, 2021
Pyruvate dehydrogenase complex deficiency is a rare and underdiagnosed disease. It can present with clinical manifestations as early as in utero. Both genetic and metabolic testing are available to determine the presence of the disease.
J. Rahesh, Rohan Anand, Victor Mendiola, R. Jacob   +3 more
semanticscholar   +1 more source

Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function

Journal of Inherited Metabolic Disease, 2022
Pyruvate dehydrogenase complex deficiency is a major cause of primary lactic acidemia resulting in high morbidity and mortality, with limited therapeutic options. PDHA1 mutations are responsible for >82% of cases.
Nicole H. Ducich, J. Mears, J. Bedoyan
semanticscholar   +1 more source

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study

Journal of Inherited Metabolic Disease, 2021
The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges both in diagnostics and disease monitoring. Prompt diagnosis is important to enable early initiation of ketogenic diet.
A. Savvidou, L. Ivarsson, Karin Naess, E. Eklund, J. Lundgren, M. Dahlin, D. Frithiof, K. Sofou, N. Darín   +8 more
semanticscholar   +1 more source

Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes

Molecular Genetics & Genomic Medicine, 2021
Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost‐effective clinical ...
Yanyan Ma, YaoGang Zhang, Tao Zhang, Zhu Man, Xiaoming Su, Shujing Hao, Tianze Wang   +6 more
semanticscholar   +1 more source

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 more
core   +1 more source

E2F1 Suppresses Oxidative Metabolism and Endothelial Differentiation of Bone Marrow Progenitor Cells [PDF]

, 2018
RATIONALE: The majority of current cardiovascular cell therapy trials use bone marrow progenitor cells (BM PCs) and achieve only modest efficacy; the limited potential of these cells to differentiate into endothelial-lineage cells is one of the major ...
Boriboun, Chan, Chandel, Navdeep S., Cheng, Min, Dong, Nian-Guo, Harris, Robert A., Huang, Kai, Liu, Qinghua, Losordo, Douglas W., Qin, Gangjian, Qiu, Hongyu, Shi, Jiawei, Sun, Tianjiao, Tao, Jun, Xu, Shiyue, Yang, Liu, Zhang, Eric, Zhao, Ting C., Zhou, Junlan   +17 more
core   +1 more source