Diethylaminobenzaldehyde Is a Covalent, Irreversible Inactivator of ALDH7A1 [PDF]
There is growing interest in aldehyde dehydrogenases (ALDHs) because of their overexpression in cancer stem cells and the ability to mediate resistance to cancer drugs. Here, we report the first crystal structure of an aldehyde dehydrogenase complexed with the inhibitor 4-diethylaminobenzaldehyde (DEAB).
Min Luo +3 more
openalex +3 more sources
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function
Certain mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy (PDE), an autosomal recessive metabolic disease characterized by seizures, and in some cases, intellectual disability. The mutational spectrum of PDE is vast and includes over 70 missense mutations.
David A. Korasick, John J. Tanner
openalex +4 more sources
Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life.
Ziyad S. Haidar +5 more
openalex +3 more sources
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse
Rationale: The activity of aldehyde dehydrogenase 7A1 (ALDH7A1), an enzyme that catalyzes the lipid peroxidation of fatty aldehydes was found to be upregulated in pancreatic ductal adenocarcinoma (PDAC). ALDH7A1 knockdown significantly reduced tumor formation in PDAC. We raised a question how ALDH7A1 contributes to cancer progression.
Jae-Seon Lee +11 more
openalex +3 more sources
Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) [PDF]
openalex +3 more sources
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity [PDF]
Mammalian aldehyde dehydrogenase 7A1 (ALDH7A1) is homologous to plant ALDH7B1 which protects against various forms of stress such as increased salinity, dehydration and treatment with oxidants or pesticides. Deleterious mutations in human ALDH7A1 are responsible for pyridoxine-dependent and folinic acid-responsive seizures. In previous studies, we have
Chad Brocker +3 more
openalex +5 more sources
Global gene expression profiling of individual human oocytes and embryos demonstrates heterogeneity in early development [PDF]
Early development in humans is characterised by low and variable embryonic viability, reflected in low fecundity and high rates of miscarriage, relative to other mammals.
Brison, Daniel R +4 more
core +8 more sources
Evidence of Mutational Heterogeneity of the ALDH7A1 Gene in Tunisian Families: Molecular and Insilico Investigations [PDF]
Abdelaziz Tlili +6 more
openalex +2 more sources
A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation
Feifei Luo +3 more
openalex +3 more sources
ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy
Flavia Maria Consuelo La Mendola +8 more
openalex +3 more sources

