Results 61 to 70 of about 1,339 (150)

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

Clinical and Translational Medicine, 2023
Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and mental retardation‐3.
Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao   +28 more
doaj   +1 more source

A Glutathione‐Centered Prognostic Model Identifies a High‐Risk Inflammatory Toxicity Phenotype in Acute Myeloid Leukemia: Implications for Immune‐Related Adverse Events and Treatment Complications

International Journal of Clinical Practice, Volume 2026, Issue 1, 2026.
The widespread use of immunotherapies and combination regimens in acute myeloid leukemia (AML) has made immune‐related adverse events (irAEs), treatment‐associated inflammatory toxicities, and the differentiation between infection and sterile inflammation major clinical challenges.
Juyan Wang, Binge Li, Kang Zhang, Zhiru Liang, Zhirui Zeng   +4 more
wiley   +1 more source

Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R)

Stem Cell Research
Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA).
Zhiqi Zhou, Xiao’e Zhang, Cuilan Hou, Ying Wu   +3 more
doaj   +1 more source

B12‐Cofactor Inactivation by Cobalt to Rhodium Mutation in Methylrhodibalamin: An Antivitamin B12 and Antibiotic

ChemistryEurope, Volume 3, Issue 6, November 11, 2025.
Replacement of cobalt in the organometallic B12‐cofactor methylcobalamin (MeCbl) by rhodium furnishes a structural mimic with a significantly stronger metal–carbon bond. This synthetically challenging formal metal‐mutation converts the naturally optimized biological methyl‐transfer catalyst MeCbl into a designed antivitamin B12, an inactivated B12 ...
Florian J. Widner, Klaus Wurst, Markus Ruetz, Christoph Kieninger, Christoph Kreutz, Michael D. Paxhia, Evelyne Deery, Martin J. Warren, Bernhard Kräutler   +8 more
wiley   +1 more source

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

Developmental Biology, 2014
Mutations in HCFC1 (MIM300019), have been recently associated with cblX (MIM309541), an X-linked, recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalities. HCFC1 is a transcriptional co-regulator that modulates the expression of numerous downstream target genes including MMACHC, but it is not clear how ...
Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.   +8 more
openaire   +2 more sources

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Almut Heinken, Hussein Awada, Vito R. T. Zanotelli, D. Sean Froese, Rosa‐Maria Guéant‐Rodriguez, Jean‐Louis Guéant   +5 more
wiley   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Blood DNA methylation signature for incident dementia: Evidence from longitudinal cohorts

Alzheimer's &Dementia, Volume 21, Issue 3, March 2025.
Abstract INTRODUCTION Distinguishing between molecular changes that precede dementia onset and those resulting from the disease is challenging with cross‐sectional studies. METHODS We studied blood DNA methylation (DNAm) differences and incident dementia in two large longitudinal cohorts: the Offspring cohort of the Framingham Heart Study (FHS) and the
Wei Zhang, Juan I. Young, Lissette Gomez, Michael A. Schmidt, David Lukacsovich, Brian W. Kunkle, X. Steven Chen, Eden R. Martin, Lily Wang   +8 more
wiley   +1 more source

Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH‐Cbl) as effective treatment, dose adjustments remain unclear.
Giorgia Olivieri, Benedetta Greco, Sara Cairoli, Giulio Catesini, Francesca Romana Lepri, Lorenzo Orazi, Maria Mallardi, Diego Martinelli, Daniela Ricci, Raffaele Simeoli, Carlo Dionisi‐Vici   +10 more
wiley   +1 more source

Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched‐chain alpha‐ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine.
Juan Ramón Tejedor, Alejandro Soriano‐Sexto, Leonardo Beccari, Natalia Castejón‐Fernández, Patricia Correcher, Lidia Sainz‐Ledo, Juan José Alba‐Linares, Rocío G. Urdinguio, Magdalena Ugarte, Agustín F. Fernández, Pilar Rodríguez‐Pombo, Mario F. Fraga, Belén Pérez   +12 more
wiley   +1 more source