Results 91 to 100 of about 1,993 (190)

LDL Cholesterol Modulates Astrocyte Metabolism, Lipid Handling, and Morphology: Evidence From In Vitro and In Vivo Models

Journal of Neurochemistry, Volume 170, Issue 3, March 2026.
In vitro, low‐density lipoprotein cholesterol (LDL cholesterol) promotes the accumulation of lipid derivatives in astrocytes. Additionally, LDL cholesterol exposure causes a decrease in the expression of low‐density lipoprotein receptor (LDLr), 3‐hydroxy‐3‐methylglutaryl‐CoA reductase (HMGCR), and sterol regulatory element‐binding transcription factor ...
Gabriela Joras Baumart, Matheus Scarpatto Rodrigues, Juliete Nathali Sholl, Arieli Cruz de Sousa, Augusto Ferreira Weber, Lílian Corrêa Costa‐Beber, Hémelin Resende Farias, Mariana Viana Costa, Ariadni Mesquita Peres, Pedro Rocha de Camargo, Fernanda Telles Fróes, Rachel Krolow Bast, Andreza Fabro de Bem, Fabrício Figueiró, Fátima T. C. R. Guma, Jade de Oliveira   +15 more
wiley   +1 more source

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia

Clinical Case Reports, Volume 14, Issue 2, February 2026.
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Thomas Cluzeau, Abderrahim Oussalah, Maël Silva Rodriguez, Mourad Naïmi   +3 more
wiley   +1 more source

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

JIMD Reports, 2020
Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of ...
Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang   +9 more
doaj   +1 more source

Vitamin B12 and Reproductive Health: Clinical Insights, Emerging Mechanistic Understanding, and Nutritional Aspects

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT Epidemiological data from assisted reproductive technologies (ART) link vitamin B12 (VitB12) deficiency to shorter gestation, low birth weight, and reduced live birth rates. VitB12 also plays a critical role in fertility for both sexes by supporting gamete quality.
Aimee Rachel Mathew, Erisa Selita, Chiara Regano, Claudia Bianco, Veronica Corsetti, Virve Cavallucci, Sandra Moreno, Ada Maria Tata, Marco Fidaleo   +8 more
wiley   +1 more source

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Orphanet Journal of Rare Diseases, 2020
Background Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism.
Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang   +26 more
doaj   +1 more source

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

Neuropsychiatric Disease and Treatment, 2019
Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism.
Wang S, Yan C, Wen B, Zhao Y
doaj  

Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases

Therapeutic Advances in Neurological Disorders, 2019
The cblC defect is the most common inborn error of cobalamin (Cbl) metabolism. Clinical severity and presentation of the cblC defect ranges from death to mild disability. Only 71 cases of late-onset cblC defect have been described in the literature.
Jeremias Motte, Janina Kneiphof, Katrin Straßburger-Krogias, Kalliopi Pitarokoili, Anna Lena Fisse, Ludwig Kappos, Ralf Gold   +6 more
doaj   +1 more source

Interaction between two ubiquitin-protein isopeptide ligases of different classes, CBLC and AIP4/ITCH

, 2002
In metazoans, CBL proteins are RING finger type ubiquitin-protein isopeptide (E3) ligases involved in the down-regulation of epidermal growth factor tyrosine kinase receptors (EGFR).
Adélaïde , José, Fiore, Frédéric, Ollendorff, Vincent, Birnbaum, Daniel, Borg, Jean-Paul, Courbard, Jean-Rémy, Adelaide, Jose   +6 more
core   +1 more source

Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant

, 2022
The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria.
Martorana, Vincenzo, Sabbatella, Raffaele, Ortore, Maria Grazia, Passantino, Rosa, Provenzano, Alessia, Costa, Maria Assunta, Mangione, Maria Rosalia, Vilasi, Silvia, Amenitsch, Heinz, Alfano, Caterina, Maria Grazia Ortore, Maria Rosalia Mangione, Alessia Provenzano, Heinz Amenitsch, Vincenzo Martorana, Silvia Vilasi, Maria Assunta Costa, Raffaele Sabbatella, Rosa Passantino, Caterina Alfano   +19 more
core   +1 more source

Data_Sheet_1_Follow-up study of neuropsychological scores of infant patients with cobalamin C defects and influencing factors of cerebral magnetic resonance imaging characteristics.XLSX

, 2022
PurposeThe purpose of this study was to investigate whether baseline cerebral magnetic resonance imaging (MRI) characteristics could predict therapeutic responsiveness in patients with cobalamin C (cblC) defects.Materials and methodsThe cerebral MRI ...
Tao Chen (75911), Yuanyuan Wang (20181), Chaofan Sui (8257719), Suna Lin (14256278), Linfeng Yang (516708), Bin Guo (142004)   +5 more
core   +1 more source