Associated Papers
Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.
Morishita Y et al.
Pediatric Blood & Cancer, 2025
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.
Mu A et al.
Dna Repair, 2023
Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells.
Tomita A et al.
Nature Communications, 2023
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
37091189 (PubMed )
Supplement: Table_1.xlsx › ADH5_ALDH2
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Mu A et al.
Blood, 2021
Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.
Dingler FA et al.
Molecular Cell, 2020
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y et al.
Science Advances, 2020
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Akaboshi S et al.
Human Mutation, 2003
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