Results 81 to 90 of about 532,713 (215)

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

, 2010
Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase.
Gumus, Hakan, GAMZE POYRAZOĞLU, Poyrazoglu, Gamze, HAKAN GÜMÜŞ, Engelen, John, Dundar, Munis, Caglayan, Ahmet Okay, STIJN GHESQUIERE, AHMET OKAY ÇAĞLAYAN, MUNIS DUNDAR, Ichida, Kimiyoshi, Kumandas, Sefer, KIMIYOSHI ICHIDA, HÜSEYIN PER, Ghesquiere, Stijn, Kondolot, Meda, MEDA KONDOLOT, Per, HÜSEYİN, SEFER KUMANDAŞ, JOHN ENGELEN, Per, Hueseyin   +20 more
core   +1 more source

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant

Clinical Case Reports
Key Clinical Message Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring.
Jamal Sayed, Abdallah Nasir, Ahmed Gamal Sayed, Omar A. Alghamdi, Elaf Jameel Alsharif   +4 more
doaj   +1 more source

Molybdenum’s Role as an Essential Element in Enzymes Catabolizing Redox Reactions: A Review

Biomolecules
Molybdenum (Mo) is an essential element for human life, acting as a cofactor in various enzymes crucial for metabolic homeostasis. This review provides a comprehensive insight into the latest advances in research on molybdenum-containing enzymes and ...
Jakub Piotr Adamus, Anna Ruszczyńska, Aleksandra Wyczałkowska-Tomasik   +2 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

Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature

Egyptian Journal of Medical Human Genetics
Background Molybdenum cofactor deficiency (MoCD) is a rare genetic disease primarily affecting the nervous system. While xanthinuria is a typical feature of MoCD, xanthine stones have been rarely described.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Rofaida M. Magdy, Mohammed Fawzy Fouad, Tarek M. M. Mansour, Eman Fathalla Gad, Elsayed Abdelkreem   +6 more
doaj   +1 more source

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients

Human Genetics, 2016
Molybdenum cofactor (MoCo) deficiency is a rare, autosomal-recessive disorder, mainly caused by mutations in MOCS1 (MoCo deficiency type A) or MOCS2 (MoCo deficiency type B) genes; the absence of active MoCo results in a deficiency in all MoCo-dependent enzymes.
Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter, Burfeind, Peter, Reiss, Jochen, Smorag, Lukasz   +9 more
openaire   +3 more sources

Beyond a dual role: how Purpureocillium lilacinum reprograms citrus metabolism for integrated biocontrol and growth promotion

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Plants harbor complex microbial communities that are fundamental to their health and productivity. Among them, endophytic fungi such as Purpureocillium lilacinum establish mutualistic associations, offering dual benefits as plant growth promoters and biocontrol agents.
Sana Bouzembila, Kamel Charaabi, Haytham Hamden, Salma Fadhel, Nesrine Tanfouri, Meriem Msaad Guerfali   +5 more
wiley   +1 more source

Isolation and characterisation of chlorate resistant mutants of barley [PDF]

, 2012
The object of this study has been to characterise barley mutants which lack the functional nitrate reductase (NR) enzyme system. In the long term it is hoped that such studies will lead to improved nitrate utilisation and ultimately to improved ...
Steven, Barbara
core   +2 more sources

Effects of Composite Reclamation Models of Sea Buckthorn, A Pioneer Species in Semi‐Arid Regions, on Soil Quality and Microbial Communities

Land Degradation &Development, EarlyView.
ABSTRACT Open‐pit coal mining severely degrades soil and ecosystem functions, constraining regional sustainability. Vegetation‐based reclamation has therefore been widely adopted as an effective approach to promote soil recovery and ecosystem restoration.
Bo Wen, Yun Li, Haixin Yang, Pengjie Guo, Donggang Guo, Yu Lin, Xianyun Zheng, Quanxi Zhang   +7 more
wiley   +1 more source