Functional and pathological roles of AHCY

P Vizán, L Di Croce, S Aranda - Frontiers in cell and developmental …, 2021 - frontiersin.org
Adenosylhomocysteinase (AHCY) is a unique enzyme and one of the most conserved
proteins in living organisms. AHCY catalyzes the reversible break of S …

Genotype-phenotype of CRB1-associated early-onset retinal dystrophy: Novel insights on retinal architecture and therapeutic window for clinical trials

Y **, S Li, Z Jiang, L Sun, L Huang… - … & Visual Science, 2024 - iovs.arvojournals.org
Purpose: The purpose of this study was to investigate the genotypic and phenotypic
characteristics of CRB1-associated early onset retinal dystrophy (CRB1-eoRD) and retinal …

Optical coherence tomography feature of retinoschisis in CRB1-associated maculopathy

JS Bellingrath, J Birtel, IH Yusuf… - JAMA …, 2024 - jamanetwork.com
CRB1-associated macular dystrophy (CAMD) presents initially with macular retinoschisis
and in more advanced disease with degeneration of the macular outer retina. 1-5 CAMD …

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene

K Ciki, C Alavanda - Molecular Syndromology, 2024 - karger.com
Introduction: S-adenosylhomocysteine hydrolase (SAHH) is one of the enzymes involved in
converting methionine to homocysteine with transmethylation processes. Methyltransfer …