Results 131 to 140 of about 2,694,828 (149)

Exploiting Oxidative Stress as Achilles' Heel: From Redox Homeostasis to Ferroptosis in Prostate Cancer. [PDF]

Antioxidants (Basel)
Yu S, Baek J, Choi T, Kim MS.
europepmc   +1 more source

Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]

Front Mol Neurosci
Valderrama GV, Moreira GA, Arruda P.
europepmc   +1 more source

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency [PDF]

International Journal of Molecular Sciences, 2022
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants.
Eylert Brodtkorb, Mazyar Yazdani, Katja B Prestø Elgstøen   +2 more
exaly   +2 more sources

Brain Malformations Associated to Aldh7a1 Gene Mutations: Report of a Novel Homozygous Mutation and Literature Review

European Journal of Paediatric Neurology, 2018
Background: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay,
Elisa Bettella, Alessandra Murgia, Alberto B Burlina   +2 more
exaly   +2 more sources

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Genetics, 2017
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin ...
Izabella Pena, Marc Ekker, David A Dyment   +2 more
exaly   +2 more sources

Prevalence of ALDH7A1 Mutations in 18 North American Pyridoxine-Dependent Seizure (PDS) Patients

Epilepsia, 2009
Purpose: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin
Ian A Glass, Sidney M Gospe, Craig L Bennett   +2 more
exaly   +2 more sources

Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense Against Hyperosmotic Stress [PDF]

Journal of Biological Chemistry, 2010
Mammalian ALDH7A1 is homologous to plant ALDH7B1, an enzyme that protects against various forms of stress, such as salinity, dehydration, and osmotic stress.
Udo Oppermann, Valeria Orlova, Triantafyllos Chavakis   +2 more
exaly   +2 more sources

Assessment of Urinary 6-Oxo-Pipecolic Acid as a Biomarker for ALDH7A1 Deficiency [PDF]

Journal of Inherited Metabolic Disease
ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (
Viktor Kožich, Peter Theodore Clayton, Youssef Khalil   +2 more
exaly   +2 more sources

Utility and Limitations of EEG in the Diagnosis and Management of ALDH7A1-Related Pyridoxine-Dependent Epilepsy. A Retrospective Observational Study [PDF]

Frontiers in Neurology
PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Eylert Brodtkorb, Trond Sand, Laurence Bindoff   +2 more
exaly   +4 more sources

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Electroclinical Variability of Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Gene Mutations in Four Taiwanese Children

Brain and Development, 2020
Ching-Shiang Chi, Chi-Ren Tsai
exaly