Results 31 to 40 of about 1,896 (150)

Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma

BMC Cancer, 2018
Background Changes in cellular metabolism are now recognized as potential drivers of cancer development, rather than as secondary consequences of disease.
Diana Andrejeva, Jan-Michael Kugler, Hung Thanh Nguyen, Anders Malmendal, Mette Lind Holm, Birgitte Groenkaer Toft, Anand C. Loya, Stephen M. Cohen   +7 more
doaj   +1 more source

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +1 more source

Diethylaminobenzaldehyde Is a Covalent, Irreversible Inactivator of ALDH7A1

ACS Chemical Biology, 2015
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, Kent S, Gates, Michael T, Henzl, John J, Tanner   +3 more
openaire   +2 more sources

Structural and kinetic studies of human aldh7a1 and aldh9a1 [PDF]

, 2021
The regulation and detoxification of endogenously and exogenously derived aldehydes is paramount to cellular survival due to the highly reactive nature of aldehydes as electrophiles. Human aldehyde dehydrogenases (ALDHs) are a superfamily of oxidoreductase enzymes that have critical roles in this regulation and detoxification.
openaire   +2 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

, 2023
Abstract Background Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can ...
Feifei Luo, Ying Ruan, LiJun Du, Li Jiang, Ying Xiong, Hanmin Liu   +5 more
openaire   +1 more source

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

Annals of Neurology, 2007
AbstractRecently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal‐onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but ...
Salomons, G.S., Bok, L.A., Struys, E.A., Pope, L.L., Darmin, P.S., Mills, P.B., Clayton, P.T., Willemsen, M.A.A.P., Jakobs, C.   +8 more
openaire   +4 more sources

Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse

Theranostics, 2021
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.
Lee, Jae-Seon, Lee, Ho, Woo, Sang Myung, Jang, Hyonchol, Jeon, Yoon, Kim, Hee Yeon, Song, Jaewhan, Lee, Woo Jin, Hong, Eun Kyung, Park, Sang-Jae, Han, Sung-Sik, Kim, Soo-Youl   +11 more
openaire   +2 more sources

The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractPyridoxine‐dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α‐aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α‐aminoadipic semialdehyde and piperideine‐6‐carboxylic acid.
Gunter, Scharer, Chad, Brocker, Vasilis, Vasiliou, Geralyn, Creadon-Swindell, Renata C, Gallagher, Elaine, Spector, Johan L K, Van Hove   +6 more
openaire   +2 more sources

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect. [PDF]

Mol Genet Metab Rep
Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to pyridoxine. Other manifestations include perinatal asphyxia, hypoglycemia, and neuroimaging abnormalities.
Bottino M, Boyer M, Steenari MR, Barrick R, Abdenur JE.   +4 more
europepmc   +3 more sources

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy

Frontiers in Neuroscience, 2023
IntroductionGenetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects.
Bin Mao, Bin Mao, Na Lin, Na Lin, Danhua Guo, Danhua Guo, Deqin He, Deqin He, Huili Xue, Huili Xue, Lingji Chen, Lingji Chen, Qianqian He, Qianqian He, Min Zhang, Min Zhang, Meihuan Chen, Meihuan Chen, Hailong Huang, Hailong Huang, Liangpu Xu, Liangpu Xu   +21 more
doaj   +1 more source