Results 31 to 40 of about 2,693,578 (146)

Data for: Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

, 2020
Here we examine the citric acid cycle enzymes activities and amounts for Cs, Idh2/3, Ogdh, Scs, Mmut, Sdh, Fh, Mdh2 from mitochondria isolated from model mouse model for methylmalonic acid (having a Mmut mutation (p.M698K) and MMut gene knockout, called ...
Chapman, K (via Mendeley Data), Chapman, Kimberly   +1 more
core   +2 more sources

Effect of Mutations in GvpJ and GvpM on Gas Vesicle Formation of Halobacterium salinarum

Frontiers in Microbiology, 2021
The two haloarchaeal proteins, GvpM and GvpJ, are homologous to GvpA, the major gas vesicle structural protein. All three are hydrophobic and essential for gas vesicle formation.
Alisa Jost, Regine Knitsch, Kerstin Völkner, Felicitas Pfeifer   +3 more
doaj   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy [PDF]

J Inherit Metab Dis
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Maddaluno M, Cinque L, Cetrangolo V, De Leonibus C.   +3 more
europepmc   +2 more sources

Circulating alanine aminotransferase activity in 4-week-old mice.

, 2022
Heterozygous (Mmut+/-) and MMA (Mmut-/-) mice were fed standard chow (21% protein content) and plasma samples from 4-week-old mice were measured for alanine aminotransferase activity. ** P t-test. (TIF)
Noel Walsh (13833794), Lauren Drouin (13833800), Kyle Chiang (13833803), Chih-Wei Ko (2022751), Shreya Amarwani (13833797), Jenisha Vora (13833785), Carmen Wu (13833791), Nikhil Ramesh (13833782), Elizabeth McCarthy (819837), Xiaohan Zhang (2291644), Jing Liao (193197), B. Nelson Chau (13833806), Susana Gordo (13833779), Dylan Frank (13833788), Matthias Hebben (3271188), Amy Bastille (13833776), Shengwen Zhang (41536), Qiang Xiong (182400)   +17 more
core   +1 more source

Unraveling the causal genes and transcriptomic determinants of human telomere length

Nature Communications, 2023
Telomere length (TL) shortening is a pivotal indicator of biological aging and is associated with many human diseases. The genetic determinates of human TL have been widely investigated, however, most existing studies were conducted based on adult ...
Ying Chang, Yao Zhou, Junrui Zhou, Wen Li, Jiasong Cao, Yaqing Jing, Shan Zhang, Yongmei Shen, Qimei Lin, Xutong Fan, Hongxi Yang, Xiaobao Dong, Shijie Zhang, Xianfu Yi, Ling Shuai, Lei Shi, Zhe Liu, Jie Yang, Xin Ma, Jihui Hao, Kexin Chen, Mulin Jun Li, Feng Wang, Dandan Huang   +23 more
doaj   +1 more source

Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle [PDF]

, 2020
Dysregulation of the mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of intermediary metabolism caused by the deficiency of ...
Berquez, Marine, Chen, Zhiyong, Luciani, Alessandro, Berquez M, Luciani A, Chen Z   +5 more
core   +1 more source

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Molecular Genetics & Genomic Medicine, 2023
Background The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang   +8 more
doaj   +1 more source

Genome-wide association study for the free amino acid and nucleotide components of breast meat in an F2 crossbred chicken population

Journal of Animal Science and Technology, 2023
Flavor is an important sensory trait of chicken meat. The free amino acid (FAA) and nucleotide (NT) components of meat are major factors affecting meat flavor during the cooking process. As a genetic approach to improve meat flavor, we performed a genome-
Minjun Kim, Eunjin Cho, Jean Pierre Munyaneza, Thisarani Kalhari Ediriweera, Jihye Cha, Daehyeok Jin, Sunghyun Cho, Jun Heon Lee   +7 more
doaj   +1 more source

Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients. [PDF]

J Inherit Metab Dis
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Heinken A, Awada H, Zanotelli VRT, Froese DS, Guéant-Rodriguez RM, Guéant JL.   +5 more
europepmc   +2 more sources

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

, 2023
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments.
Frei, C., Cherkaoui, S., Simmons, Luke, Lamparter, David, Poms, Martin, Dermitzakis, E.T., Dermitzakis, Emmanouil T., Traversi, Florian, Morscher, Raphael J., Bürer, Céline, Zamboni, N., Baumgartner, M.R., Aebersold, R., Rätsch, Gunnar, Rätsch, G., Xenarios, I., Froese, D.S., Frei, Caroline, Bonilla, Ximena, Harshman, Keith, Bürer, C., Morscher, R.J., Plessl, T., Bonilla, X., Zamboni, Nicola, Howald, C., Howald, Cedric, Pedrioli, Patrick G. A., van Drogen, Audrey, Forny, Patrick, Shao, Wenguang, Wollscheid, Bernd, Lamparter, D., Traversi, F., van Drogen, A., Shao, W., Simmons, L., Plessl, Tanja, Forny, Merima, Froese, D. Sean, Goetze, S., Forny, P., Goetze, Sandra, Bingisser, A., Pedrioli, PGA, Poms, M., Wollscheid, B., Cherkaoui, Sarah, Bingisser, Anna, Baumgartner, Matthias R., Aebersold, Ruedi, Xenarios, Ioannis, Forny, M., Harshman, K.   +53 more
core   +1 more source