Results 51 to 60 of about 1,339 (150)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Methionine Synthase Interacts With the Methionine Adenosyl‐Transferase MATα2 and the DNA Methyltransferase DNMT3b in the Nucleus

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
This study shows that methionine synthase (MS) interacts with MATα2, responsible for SAM production, and the methyltransferase DNMT3b in the nucleus. These results support the idea that spatial compartmentalization of one‐carbon metabolism could play a major role in regulating the epigenome.
Manon Jeandel, Jean‐Marc Alberto, Okan Baspinar, Aurélie Robert, Natacha Dreumont, Zeinab Alsahly, David Meyre, Jean‐Louis Guéant, David Coelho   +8 more
wiley   +1 more source

Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease. [PDF]

Eur Biophys J
Abstract Vitamin B12 (cobalamin, Cbl) is a coordination compound of the cobalt, located at the center of a corrin ring composed of four pyrrolic-like groups. The cobalt ion can be bound to a variety of upper axial ligands, which vary among different cobalamin forms, including hydroxocobalamin (OHCbl), cyanocobalamin (CNCbl ...
Longo L, Costa MA, Carrotta R, Mangione MR, Martorana V, Tutone M, Ortore MG, Garcia-Franco PM, Vega S, Velazquez-Campoy A, Passantino R, Vilasi S.   +11 more
europepmc   +4 more sources

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Frontiers in Neurology, 2020
Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect.
Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang, Yun Yuan   +5 more
doaj   +1 more source

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population

Frontiers in Genetics, 2022
Tandem mass spectrometry (MS/MS) has been developed as one of the most important diagnostic platforms for the early detection and screening of inherited metabolic disorders (IMDs).
Hong Zhang, Yanyun Wang, Yali Qiu, Chao Zhang   +3 more
doaj   +1 more source

Intracellular Cobalamin Defect in Early Infancy: A Cause of Hypotonia and Cytopenias

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Intracellular cobalamin metabolism defects (ICMDs) are rare but inherited disorders that disrupt the conversion of cobalamin into its active cofactors, methylcobalamin and adenosylcobalamin. We report a 40‐day‐old female infant with progressive hypotonia, poor feeding, hydrocephalus, and pancytopenia, whose metabolic profile demonstrated severe ...
Maryam Saeedi, Razieh Sangsari, Parastoo Rostami, Kayvan Mirnia, Sedigheh Shams, Sepideh Rahmati, Semonti Nandi   +6 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Abnormal chondrocyte intercalation in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant

, 2023
Abstract Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism.
David Paz, Briana E. Pinales, Barbara S. Castellanos, Isaiah Perez, Claudia B. Gil, Lourdes Jimenez Madrigal, Nayeli G. Reyes-Nava, Victoria L. Castro, Jennifer L. Sloan, Anita M. Quintana   +9 more
openaire   +2 more sources

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

Molecular Genetics and Metabolism Reports
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene.
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou   +11 more
doaj   +1 more source

The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts

Genetics Research , Volume 2026, Issue 1, 2026.
Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao, Sidi Zhang, Haoyun Zhu, Zhonglin Jia, Irfan Ahmad   +4 more
wiley   +1 more source