Results 1 to 10 of about 2,693,578 (146)

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient [PDF]

Genetics Research, 2022
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder mainly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MMUT) and leads to the reduced activity of MCM.
Siyu Dai, Yanting Yang, Yaqian Li, Hongqian Liu   +3 more
doaj   +7 more sources

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. Methods This was a retrospective study of patients diagnosed with mut‐type MMA.
Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han   +22 more
doaj   +7 more sources

Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability [PDF]

Genetics Selection Evolution
Background Recessive deleterious variants are known to segregate in livestock populations, as in humans, and some may be lethal in the homozygous state. Results We used phased 50 k single nucleotide polymorphism (SNP) genotypes and pedigree data to scan ...
Maxime Ben Braiek, Carole Moreno-Romieux, Céline André, Jean-Michel Astruc, Philippe Bardou, Arnaud Bordes, Frédéric Debat, Francis Fidelle, Itsasne Granado-Tajada, Chris Hozé, Florence Plisson-Petit, François Rivemale, Julien Sarry, Némuel Tadi, Florent Woloszyn, Stéphane Fabre   +15 more
doaj   +7 more sources

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.
Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han   +23 more
doaj   +5 more sources

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype

Heliyon
Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine.
Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai   +9 more
doaj   +4 more sources

Clinical phenotypes and genetic mutation analysis of 45 neonatal-onset methylmalonic acidemia [PDF]

Frontiers in Pediatrics
BackgroundMethylmalonic acidemia (MMA), the most prevalent organic acidemia in China, is an autosomal recessive disorder. Neonatal-onset MMA often presents with non-specific manifestation, often causing diagnostic delays.MethodsA retrospective analysis ...
Qun Xu, Lili Kang, Huiting Yv, Yunxia Li, Chen Liu, XiaoYing Li   +5 more
doaj   +2 more sources

Integrative proteogenomic analyses identify plasma proteins that impact the risk of ischemic stroke [PDF]

Communications Medicine
Background Understanding the proteins implicated in the pathogenesis of ischemic stroke is important for elucidating disease mechanisms and informing prevention strategies.
Lazaros Belbasis, Adam von Ende, Parag Gajendragadkar, Elsa Valdes-Marquez, Federico Murgia, Cornelia van Duijn, Jemma C. Hopewell   +6 more
doaj   +2 more sources

Methylmalonate accumulation contributes to myocardial vulnerability post-reperfusion: a novel therapeutic target and prognostic biomarker [PDF]

BMC Medicine
Background Dysfunctional mitochondria are a prominent feature of myocardial ischemic-reperfusion (I/R) injury, but the clinical translation is scarce.
Shanjie Wang, JunChen Guo, Zeng Wang, Kegong Chen, Xiaoxuan Liu, Yan Cui, Ye Wang, Zhaoying Li, Hengxuan Cai, Guanpeng Ma, Zhenming Zhang, Guokun Wang, Lili Xiu, Shuijie Li, Hulun Li, Haibo Jia, Bo Yu, Shaohong Fang   +17 more
doaj   +2 more sources

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients [PDF]

Scientific Reports
Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria.
Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard   +3 more
doaj   +2 more sources

TEAD3 + high-risk melanoma cells crosstalk with GAS6 + macrophages via the GAS6-TYRO3 ligand-receptor axis to modulate propionate metabolism and drive melanoma progression [PDF]

Journal of Experimental & Clinical Cancer Research
Background Melanoma, a highly heterogeneous malignancy, remains refractory to conventional therapies due to poorly defined molecular and metabolic drivers.
Yongjin Fang, Xiaofan Xu, Rihui Lu, Ye Huang, Xinshen Dai, Pucheng Huang, Xuefeng Fu, Pan Zhuge   +7 more
doaj   +2 more sources