Results 181 to 190 of about 5,906 (214)

Thiamine-Responsive Pyruvate Dehydrogenase Complex Deficiency in a Patient with Recurrent Muscle Weakness and a Point Mutation C.C262t (P.R88c) in Pdha1 Affecting Protein Levels and Mitochondrial Bioenergetics

Alfredo Cerisola, Víctor Raggio, Mariana Chaves, Martina Alonso, Santiago Mansilla, Cristina Zoco Zabala, Graciela Barros, Hugo Naya, Gabriel González, Laura Castro, Martín Graña, Lucía Spangenberg, Celia Quijano   +12 more
openalex   +1 more source

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

Keegan A, Cetin O, Chilcott EM, Antinao Diaz J, Eaton S, Waddington SN, Counsell JR, Rahman S, Karda R.   +8 more
europepmc   +1 more source

PDH Inhibition in <i>Drosophila</i> Ameliorates Sensory Dysfunction Induced by Vincristine Treatment in the Chemotherapy-Induced Peripheral Neuropathy Models. [PDF]

Biomedicines
Song H, Kim S, Han JE, Kang KH, Koh H.
europepmc   +1 more source

Identification and analysis of cuproptosis associated molecular clusters and immunological profiles in atopic dermatitis. [PDF]

Front Immunol
Wang L, Wang B, Peng M, Yang X, Huang S, Wang R, Du L, Yao R, Wang W, Dong B, Zhu Y.   +10 more
europepmc   +1 more source

A novel cuproptosis-related prognostic gene signature and validation of differential expression in colon cancer. [PDF]

Discov Oncol
Song Q, Yu Z, Wu Y, Huang P, Zhou R, Xu X.   +5 more
europepmc   +1 more source

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Low expression of PDHA1 predicts poor prognosis in gastric cancer

Pathology Research and Practice, 2019
PDH E1 component subunit alpha (PDHA1) has been reported to be biologically significant in several human tumors. The aim of this study was to investigate the expression of PDHA1 in gastric cancer (GC) and its relationship with clinicopathological characteristics and prognosis. Oncomine analysis of neoplastic vs.
Lei Yang
exaly   +3 more sources

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

Journal of Clinical Endocrinology and Metabolism, 2022
Abstract Context Nephropathy is a severe complication of type 1 diabetes (T1DM). However, the interaction between the PDHA1-regulated mechanism and CD4+ T cells in the early stage of kidney tubular injury remains unknown. Objective To
Chung-Hsing Wang, Wen-Li Lu, Pen-Hua Su
exaly   +3 more sources

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence

European Journal of Paediatric Neurology, 2017
Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC ...
Kris Van Den Bogaert, Thomy de Ravel, Liesbeth De Waele   +2 more
exaly   +5 more sources