Results 81 to 90 of about 1,137 (152)

Analysis of gene mutations among South Indian patients with maple syrup urine disease: Identification of four novel mutations

, 2013
442-446Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched-chain α-keto acid dehydrogenase complex, respectively.
Narayanan, M P, Vasudevan, D M, Menon, Krishnakumar N   +2 more
core  

Additional file 4: of Genome-wide DNA methylation profiles in Tibetan and Yorkshire pigs under high-altitude hypoxia

, 2019
Figure S1. Distribution of peaks varied with peak length in the four groups of pigs. Figure S2. Distribution of peaks in different gene elements in the four comparsion groups.
Xiao Gou (193279), Lin Yang (45852), Bo Zhang (6559), Yangzom Chamba (818794), Dongmei Ban (6417824), Yawen Zhang (806754), Hao Zhang (15339)   +6 more
core   +1 more source

The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2018
BACKGROUND AND OBJECTIVE: Maple syrup urine disease is a rare inborn metabolic inherited disorder caused by deficiency of branched chain α-keto acid dehydrogenase complex and leading to accumulation of branched chain amino acids in body fluid.
N Gorjizadeh, O Jazayeri, S Najavand, M Alijanpour   +3 more
doaj  

Multiomics analyses of human colorectal cancer reveal changes in mitochondrial metabolism associated with chemotherapy resistance

Frontiers in Oncology
BackgroundMitochondria are essential organelles involved in energy production, cellular metabolism, and signal transduction. They have important impacts on tumorigenesis and cancer progression.
Shiyi Chen, Shiyi Chen, Qian Li, Wei Zheng   +3 more
doaj   +1 more source

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by impaired catabolism of branched-chain amino acids (BCAAs). The genes BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain alpha-ketoacid dehydrogenase ...
Icil, Suzan, Kilic, Mustafa, Sezer, Abdullah, Gokce-Altas, Gizem, Dogan, Sevgi, Bakir, Abduellatif, KOŞUKCU, CAN, Sayar, Esra   +7 more
core   +1 more source

The Molecular Basis of Maple Syrup Urine Disease [PDF]

Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC).
Jensen, Chloe
core   +1 more source

Maple syrup urine disease: mechanisms and management

The Application of Clinical Genetics, 2017
Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS   +7 more
doaj  

Changes in tissue abundance and activity of enzymes related to branched-chain amino acid catabolism in dairy cows during early lactation

, 2019
Branched-chain α-keto acid dehydrogenase (BCKDH) complex catalyzes the irreversible oxidative decarboxylation of branched-chain α-keto acids. This reaction is considered as the rate-limiting step in the overall branched-chain amino acid (BCAA) catabolic ...
Webb, L. A., Dänicke, Sven, Stehle, P., Sadri, H., Egert. S., Sauerwein, H., Soosten, Dirk von   +6 more
core   +1 more source

Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations

, 2019
Maple syrup urine disease is the primary aminoacidopathy affecting branched-chain amino acid (BCAA) metabolism. The disease is mainly caused by the deficiency of an enzyme named branched-chained α-keto acid dehydrogenase (BCKD), which consist of four ...
Abiri, M., Eghbali, M., Karamzadeh, R., Sharifi, Z., Zeinali, S., Shirzadeh, T., Saei, H.   +6 more
core  

Integrated transcriptomics and metabolomics reveal the molecular characteristics and metabolic regulatory mechanisms among different muscles in Minxian black fur sheep

BMC Genomics
Background Mammalian skeletal muscle is comprised of heterogeneous fibers with various contractile and metabolic properties that affect muscle flavor. Thus, it is of great significance to identify and characterize the potential molecular characteristics ...
Huihui Wang, Zilong Liu, Hai Yang, Yaqin Bai, Qiao Li, Xingcai Qi, Dengpan Li, Xingxu Zhao, Youji Ma   +8 more
doaj   +1 more source