Results 21 to 30 of about 1,339 (150)

Overexpression of MMACHC Prevents Craniofacial Phenotypes Caused by Knockdown of znf143b

American Journal of Undergraduate Research, 2023
ZNF143 is a sequence-specific DNA binding protein that regulates the expression of protein-coding genes and small RNA molecules. In humans, ZNF143 interacts with HCFC1, a transcriptional cofactor, to regulate the expression of downstream target genes, including MMACHC, which encodes an enzyme involved in cobalamin (cbl) metabolism.
Isaiah, Perez, Nayeli G, Reyes-Nava, Briana E, Pinales, Anita M, Quintana   +3 more
openaire   +2 more sources

The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans [PDF]

Molecular Genetics and Metabolism, 2011
Cobalamin (Cbl, B(12)) is an essential micronutrient required to fulfill the enzymatic reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial adenosylcobalamin-dependent methylmalonyl-CoA mutase. Mutations in the MMACHC gene (cblC complementation group) disrupt processing of the upper-axial ligand of newly internalized ...
Luciana, Hannibal, Patricia M, DiBello, Michelle, Yu, Abby, Miller, Sihe, Wang, Belinda, Willard, David S, Rosenblatt, Donald W, Jacobsen   +7 more
openaire   +2 more sources

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease. [PDF]

JIMD Rep
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Selvanathan A, Hertzog A, Russell J, Junek R, Ellaway C, Lichkus K, Tolun AA, Bhattacharya K.   +7 more
europepmc   +2 more sources

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.

PLoS ONE, 2020
Twelve human THAP proteins share the THAP domain, an evolutionary conserved zinc-finger DNA-binding domain. Studies of different THAP proteins have indicated roles in gene transcription, cell proliferation and development.
Harmonie Dehaene, Viviane Praz, Philippe Lhôte, Maykel Lopes, Winship Herr   +4 more
doaj   +1 more source

Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease

Frontiers in Medicine, 2022
BackgroundMutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency.
Qiang Wang, Qi Wang, Yanxia Gao, Chenquan Tang, Zhaoli Gao, Zhao Hu   +5 more
doaj   +1 more source

Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene

Stem Cell Research, 2020
Methylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity.
Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling

Biomedicines, 2023
Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is required by the body to metabolize cobalamin (Cbl). Due to its complex structure and cofactor forms, Cbl passes through an extensive series of absorptive and processing steps before ...
Priya Antony, Bincy Baby, Amanat Ali, Ranjit Vijayan, Fatma Al Jasmi   +4 more
doaj   +1 more source

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking [PDF]

Journal of Biological Chemistry, 2015
Conversion of vitamin B12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and adenosyl-Cbl (AdoCbl) is required for the function of two crucial enzymes, mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase, respectively. The intracellular proteins MMACHC and MMADHC play important roles in processing and targeting the Cbl
Froese, D Sean, Kopec, Jolanta, Fitzpatrick, Fiona, Schuller, Marion, McCorvie, Thomas J, Chalk, Rod, Plessl, Tanja, Fettelschoss, Victoria, Fowler, Brian, Baumgartner, Matthias R, Yue, Wyatt W   +10 more
openaire   +6 more sources