Zobrazeno 1 - 10
of 93
pro vyhledávání: '"PDHc"'
Akademický článek
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Autor:
Yuichi Akaba, Satoru Takahashi, Ryo Takeguchi, Ryosuke Tanaka, Shin Nabatame, Hirotomo Saitsu, Naomichi Matsumoto
Publikováno v:
Clinical Case Reports, Vol 9, Iss 3, Pp 1711-1715 (2021)
Abstract Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these di
Externí odkaz:
https://doaj.org/article/b8641c670ef84b60a248b4e5009efd26
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background 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
Externí odkaz:
https://doaj.org/article/501024e40b354ffda53b227b8a8795bf
Autor:
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100629- (2020)
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gen
Externí odkaz:
https://doaj.org/article/62da609519d049c487e202f93647ff04
Autor:
Orna Staretz-Chacham, Ben Pode-Shakked, Eyal Kristal, Smadar Yaala Abraham, Keren Porper, Ohad Wormser, Ilan Shelef, Yair Anikster
Publikováno v:
Nutrients, Vol 13, Iss 10, p 3523 (2021)
Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruvate dehydrogenase complex (PDHC)) is the third catalytic enzyme of the PDHC, which converts pyruvate to acetyl-CoA catalyzed with the introduction of
Externí odkaz:
https://doaj.org/article/41e458e5c11245b6b93cd887355b425e
Autor:
E. Ciara, D. Rokicki, P. Halat, A. Karkucińska-Więckowska, D. Piekutowska-Abramczuk, J. Mayr, J. Trubicka, T. Szymańska-Dębińska, M. Pronicki, M. Pajdowska, M. Dudzińska, M. Giżewska, M. Krajewska-Walasek, J. Książyk, W. Sperl, R. Płoski, E. Pronicka
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 70-76 (2016)
Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim of this work was to assess the diagnostic value of biochemical method
Externí odkaz:
https://doaj.org/article/1d7800cfa3654508be355f228f9e59ce
Autor:
Gaoyan Grace Tang-Siegel
Publikováno v:
Life
Volume 13
Issue 2
Pages: 436
Volume 13
Issue 2
Pages: 436
Antimicrobial resistance is rising as a major global public health threat and antibiotic resistance genes are widely spread among species, including human oral pathogens, e.g., Aggregatibacter actinomycetemcomitans. This Gram-negative, capnophilic, f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d283439c03c0c12d3df24addd2bfc5
Autor:
Kristin K. Deeb, Jirair K. Bedoyan, Raymond Wang, Leighann Sremba, Molly C. Schroeder, George J. Grahame, Monica Boyer, Shawn E. McCandless, Douglas S. Kerr, Shulin Zhang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 362-367 (2014)
Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked PDHA1 gene. Males with hemizygous PDHA1 mutations are clinically more severely affected, while those with mosaic PDHA1 mutations may manifest milder phenoty
Externí odkaz:
https://doaj.org/article/8d79b78b19154240beb1b13c115cb917
Akademický článek
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Akademický článek
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