Results 61 to 70 of about 452,408 (160)
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 +5 more
wiley +1 more source
Renal thrombotic microangiopathy in patients with cblC defect:review of an under-recognized entity [PDF]
, 2017 Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B-12) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly,
Kömhoff, Martin +4 more
core +1 more source
Mouse Models To Study the Pathophysiology of Combined Methylmalonic Acidemia and Homocystinuria, cblC Type [PDF]
, 2020 Combined methylmalonic acidemia and homocystinuria, cblC type, is the most common inherited disorder of cobalamin metabolism and is characterized by severe fetal developmental defects primarily impacting the central nervous system, hematopoietic system ...
Wong, Leeyean +11 more
core +1 more source
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 +8 more
wiley +1 more source
, 2022 BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun (2830394) +4 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman +18 more
wiley +1 more source
HemaSphere, Volume 10, Issue 5, May 2026.Abstract Approximately 1% of chronic lymphocytic leukemia (CLL) cases harbor a translocation juxtaposing the immunoglobulin heavy chain (IGH) and B‐cell lymphoma 3 (BCL3) loci. Aiming at comprehensive molecular characterization of IGH::BCL3‐positive B‐cell neoplasms, we here investigated samples from 84 patients using fluorescence in situ hybridization
Cosima Drewes +24 more
wiley +1 more source
SRC recruits CBLC to the Golgi apparatus.
, 2015 (A) CBL and CBLC localize to the Golgi apparatus. MannII-GFP and endogenous CBL, CBLB, or CBLC staining in HeLa cells. (B) SRC activation enhances recruitment of CBLC to the Golgi apparatus.
Adrian Boey (573783) +5 more
core +1 more source
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans
, 2015 Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. Despite a multidrug treatment, the long-term follow-up of early-onset patients is often unsatisfactory ...
Pastore, A. +23 more
core +1 more source
, 2022 BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun (2830394) +4 more
core +1 more source