Results 11 to 20 of about 8,969 (140)

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source

The Molecular Basis of Pyruvate Carboxylase Deficiency: Mosaicism correlates with prolonged survival

Molecular Genetics and Metabolism, 2008
Pyruvate carboxylase (PC) deficiency (OMIM, 266150) is a rare autosomal recessive disease. The revised PC gene structure described in this report consists of 20 coding exons and four non-coding exons at the 5’-untranslated region (5’-UTR). The gene codes
Dong Wang, Hong Yang, K. D. De Braganca, Jiesheng Lu, Ling Yu Shih, P. Briones, D. D. De Vivo   +6 more
semanticscholar   +1 more source

Long Noncoding RNA PCALRx Interacts with Pyruvate Carboxylase to Drive Multi‐Organ Developmental Toxicity in Zebrafish Embryos Exposed to Amoxicillin

Advanced Science, EarlyView.
Embryonic amoxicillin exposure disrupts multi‐organ development in zebrafish larvae through a lncRNA–metabolic enzyme regulatory axis. PCALRx associates with pyruvate carboxylase, promotes PC protein ubiquitination, and impairs mitochondrial energy metabolism, while vitamin B1 partially restores PC‐centered metabolic function and developmental outcomes.
Yixue Yao, Ping Jiang, Xinli Zhou, Mengying Yin, Qiong Luo, Hui Wang   +5 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +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

Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition

Nature Communications
Deficiencies in the electron transport chain (ETC) lead to mitochondrial diseases. While mutations are distributed across the organism, cell and tissue sensitivity to ETC disruption varies, and the molecular mechanisms underlying this variability remain ...
Lucia del Prado, Myriam Jaraíz-Rodríguez, Mauro Agro, Marcos Zamora-Dorta, Natalia Azpiazu, Manuel Calleja, Mario Lopez-Manzaneda, Jaime de Juan-Sanz, Alba Fernández-Rodrigo, José A. Esteban, Mònica Girona, Albert Quintana, Eduardo Balsa   +12 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Bile acid metabolism and signaling in human and animal health: A One Health perspective

iMetaOmics, EarlyView.
Bile acids maintain host homeostasis through enterohepatic circulation, microbial transformation, and bile acid receptor signaling, thereby regulating glucose and lipid metabolism, intestinal barrier integrity, and immunity. These effects support human disease intervention and health‐oriented animal production, reducing drug dependence and residue ...
Lei Li, Shuai Liu, Zhijun Cao, Yangchun Cao, Shengru Wu, Lu Deng, Junhu Yao, Jun Zhang   +7 more
wiley   +1 more source

Loss of Propionyl-CoA Carboxylase Reprograms Hepatic Metabolism by Suppressing Mitochondrial Pyruvate Carboxylation and Fatty Acid Oxidation

bioRxiv
Propionic acidemia (PA) is an inborn error of metabolism caused by propionyl-CoA carboxylase (PCC) deficiency due to mutations in either PCCA or PCCB. Without proper management, the disease is associated with high mortality. Even with dietary restriction,
Fang Lu, Chorlada Paiboonrungruang, Wentao He, Zhaohui Xiong, Pingchuan Tang, T. Kasumov, Xiaoxin Chen, Guofang Zhang   +7 more
semanticscholar   +1 more source

Insulin Resistance: An Update on Biochemical and Pathophysiological Mechanisms and Impact on Various Diseases

iNew Medicine, EarlyView.
ABSTRACT Insulin resistance is the biological phenomenon in which the human body's normal response to the metabolic hormone insulin is compromised. Insulin is a regulator of most of the essential metabolic steps in the body that control energy homoeostasis, so dysregulation leads to multiple diverse human diseases including, most prominently, Type 2 ...
Peter J. Little, Stefan Offermanns, Haaglim Cho, Zhiping Liu, Pinglian Yang, Qiaozhu Su, Henry Wade, Wah Yang, Danielle Kamato, Neale Cohen, Alex Bobik, Iqra Ilyas, Suowen Xu   +12 more
wiley   +1 more source