Results 161 to 170 of about 1,993 (190)

CBLC Inhibits the Proliferation and Metastasis of Breast Cancer Cells via Ubiquitination and Degradation of CTTN

Journal of Receptor and Signal Transduction Research, 2022
The E3 ubiquitin ligase is an important regulator of cell signaling and proteostasis and is tightly controlled in many diseases, including cancer. Our study aimed to investigate the biological role of the E3 ubiquitin ligase CBLC in breast cancer and ...
Jianfeng Hang (2985864), Bin Xiao (146435), Jingrun Lu (8100791), Zhenzhan Kuang (4377529), Chun Deng (1404892), Quan Zhou (492529), Linhai Li (4395022), Ting Lei (304331), Fei Mo (624539), Xiaoyu Song (301182), Hanlin Yang (5657690), Weiwei Li (364036), Zhaoxun Luo (740803), Yongyin He (11522413), Wenwu Zhang (311832)   +14 more
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Intracellular Processing of Vitamin B12 by MMACHC (CblC)

Vitamins and Hormones, 2022
Vitamin B12 (cobalamin, Cbl, B12) is a water-soluble micronutrient synthesized exclusively by a group of microorganisms. Human beings are unable to make B12 and thus obtain the vitamin via intake of animal products, fermented plant-based foods or supplements.
Luciana Hannibal, Donald W Jacobsen
exaly   +3 more sources

The Human B12 Trafficking Chaperones: CblA, ATR, CblC and CblD

Methods in Enzymology, 2022
Mammals rely on an elaborate intracellular trafficking pathway for processing and delivering vitamin B12 to two client enzymes. CblC (also known as MMACHC) is postulated to receive the cofactor as it enters the cytoplasm and converts varied B12 derivatives to a common cob(II)alamin intermediate.
Shubhadra Pillay, Ruma Banerjee, Markus Ruetz   +2 more
exaly   +3 more sources

Processing of Alkylcobalamins in Mammalian Cells: A Role for the MMACHC (cblC) Gene Product [PDF]

Molecular Genetics and Metabolism, 2009
The MMACHC gene product of the cblC complementation group, referred to as the cblC protein, catalyzes the in vitro and in vivo decyanation of cyanocobalamin (vitamin B(12)). We hypothesized that the cblC protein would also catalyze the dealkylation of newly internalized methylcobalamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl), the naturally ...
Ruma Banerjee, Nicola Brasch, David S Rosenblatt   +2 more
exaly   +3 more sources

Hydrocephalus in cblC type methylmalonic acidemia

Metabolic Brain Disease, 2018
Methylmalonic acidemia (MMA) is a typical type of organic acidemia caused by defects in methylmalonyl-CoA mutase or adenosyl-cobalamin synthesis. Hydrocephalus (HC), results from an imbalance between production and absorption of cerebrospinal fluid (CSF), causeing enlarged cerebral ventricles and increased intracranial pressure, is a condition that ...
Kaihui, Zhang, Min, Gao, Guangyu, Wang, Yingying, Shi, Xiaoying, Li, Yvqiang, Lv, Guangye, Zhang, Zhongtao, Gai, Yi, Liu   +8 more
openaire   +2 more sources

Thiolatocobalamins Repair the Activity of Pathogenic Variants of the Human Cobalamin Processing Enzyme CblC

Biochimie, 2021
Thiolatocobalamins are a class of cobalamins comprised of naturally occurring and synthetic ligands. Glutathionylcobalamin (GSCbl) occurs naturally in mammalian cells, and also as an intermediate in the glutathione-dependent dealkylation of methylcobalamin (MeCbl) to form cob(I)alamin by pure recombinant CblC from C. elegans.
Luciana Hannibal, Sergei Makarov, Ute Spiekerkötter   +2 more
exaly   +4 more sources

Stabilization of AURKA by the E3 ubiquitin ligase CBLC in lung adenocarcinoma

Oncogene, 2022
CBL family proteins (CBL, CBLB and CBLC in mammals) are E3 ubiquitin ligases of protein tyrosine kinases. CBL mediates the lysosomal degradation of activated EGFR through K63-linked ubiquitination, while CBLC has an oncogenic function by positively regulating EGFR activation through K6 and K11-linked ubiquitination in EGFR mutant lung adenocarcinoma ...
Shiao-Ya Hong, Yi-Chun Lu, Shih-Hsin Hsiao, Yu-Rung Kao, Meng-Hsuan Lee, Yi-Ping Lin, Cheng-Yi Wang, Cheng-Wen Wu   +7 more
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Optic atrophy in association with cobalamin C (cblC) disease

Ophthalmic Genetics, 2000
To report the association of optic atrophy with cobalamin C (cblC) disease.Descriptive case reports on three patients, two of whom were siblings.All three patients with cblC disease exhibited bilateral optic atrophy with decreased visual acuity. Of the two siblings, the younger sister had received cobalamin supplements from birth and the mother had ...
N, Patton, S, Beatty, I C, Lloyd, J E, Wraith   +3 more
openaire   +2 more sources

Treatment of cobalamin C (cblC) deficiency during pregnancy

Journal of Inherited Metabolic Disease, 2010
AbstractObjectiveTo report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).MethodRetrospective chart review.ResultsA 24‐year‐old woman presented at 14 weeks gestation with nausea, self‐restricted protein diet, and weight loss.
Catherine, Brunel-Guitton, Teresa, Costa, Grant A, Mitchell, Marie, Lambert   +3 more
openaire   +2 more sources

Glutathione metabolism in cobalamin deficiency type C (cblC)

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundMethylmalonic aciduria with homocystinuria, cblC defect, is the most frequent disorder of vitamin B12 metabolism. CblC patients are commonly treated with a multidrug therapy to reduce metabolite accumulation and to increase deficient substrates.
Anna, Pastore, Diego, Martinelli, Fiorella, Piemonte, Giulia, Tozzi, Sara, Boenzi, Gianna, Di Giovamberardino, Sara, Petrillo, Enrico, Bertini, Carlo, Dionisi-Vici   +8 more
openaire   +2 more sources