Results 111 to 120 of about 66,093 (301)

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. [PDF]

Hum Mutat, 2021
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT.   +15 more
europepmc   +1 more source

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

British Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis, Leiah J. Brigitha, Lidwien M. Hanff, Alwin D. R. Huitema, Inge M. van der Sluis, Meta H. M. Diekstra   +5 more
wiley   +1 more source

Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene [PDF]

, 2001
The gene for the single subunit, rotenone-insensitive, and flavone-sensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae (NDI1) can completely restore the NADH dehydrogenase activity in mutant human cells that lack the essential ...
Attardi, Giuseppe, Bai, Yidong, Chan, Elisa, Chomyn, Anne, Hájek, Petr, Matsuno-Yagi, Akemi, Seo, Byoung Boo, Yagi, Takao   +7 more
core   +1 more source

Cytochrome c oxidase deficiency: Patients and animal models

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010
Cytochrome c oxidase (COX) deficiencies are one of the most common defects of the respiratory chain found in mitochondrial diseases. COX is a multimeric inner mitochondrial membrane enzyme formed by subunits encoded by both the nuclear and the mitochondrial genome.
openaire   +3 more sources

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Fungicide Resistance Genetics of Apple Scab fungus Venturia inaequalis [PDF]

, 2015
Apple scab, caused by the ascomycete fungus Venturia inaequalis, is considered the most devastating disease on domestic apple crops. Apples are the most important cultivated crop in temperate regions and the United States produced about 4.6 million tons ...
Reddel, Alexis LT
core   +1 more source

Nanomaterials‐mediated glycolysis rewriting to potentiate tumor immunotherapy

BMEMat, EarlyView.
This review systematically summarizes cutting‐edge advances in glycolysis‐rewiring nanomedicines, emphasizing their mechanisms in reversing immunosuppression and reinvigorating antitumor immune responses. Challenges in clinical translation and future directions for designing multifunctional metabolic‐immune modulators are also critically discussed ...
Zilin Ma, Songyan Li, Jie Yan, Xuechun Wang, Wen Zhao, Yunxuan Song, Dongdong Liu, Jianwei Jiao, Xiuying Duan, Guiqiang Zhang   +9 more
wiley   +1 more source

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

EMBO Molecular Medicine, 2019
Nuclear and mitochondrial genome mutations lead to various mitochondrial diseases, many of which affect the mitochondrial respiratory chain. The proteome of the intermembrane space (IMS) of mitochondria consists of several important assembly factors that
Karthik Mohanraj, Michal Wasilewski, Cristiane Benincá, Dominik Cysewski, Jaroslaw Poznanski, Paulina Sakowska, Zaneta Bugajska, Markus Deckers, Sven Dennerlein, Erika Fernandez‐Vizarra, Peter Rehling, Michal Dadlez, Massimo Zeviani, Agnieszka Chacinska   +13 more
doaj   +1 more source

Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy

BMEMat, EarlyView.
Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu, Xuejian Wang, Wenyan Jiang, Wan Hairul Anuar Kamaruddin, Chunyan Fang, Pengfei Zhang   +5 more
wiley   +1 more source

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

EMBO Molecular Medicine, 2018
Loss‐of‐function mutations in APOPT1, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome c oxidase (COX) deficiency.
Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini, Michael P Murphy, James A Nathan, Carlo Viscomi, Erika Fernandez‐Vizarra, Massimo Zeviani   +12 more
doaj   +1 more source