Results 41 to 50 of about 1,820 (150)

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

Mol Genet Metab Rep
Bottino M, Boyer M, Steenari MR, Barrick R, Abdenur JE.   +4 more
europepmc   +2 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation [PDF]

, 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
openalex   +2 more sources

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu - Alu recombination [PDF]

Neurology, 2015
To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene.
Heather C. Mefford, Matthew Zemel, Eileen Geraghty, Joseph Cook, Peter T. Clayton, Karl Paul, Barbara Plecko, Philippa B. Mills, Douglas R. Nordli, Sídney M. Gospe   +9 more
openalex   +4 more sources

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Annals of the Child Neurology Society, 2023
Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin  II, Sidney M. Gospe  Jr.   +1 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

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

A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

Asian Journal of Surgery
Feifei Luo, Ying Ruan, Ying Xiong, Haiyang Zhang   +3 more
openalex   +3 more sources

Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity [PDF]

Chemico-Biological Interactions, 2011
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
BROCKER C, CANTORE M, FAILLI, PAOLA, VASILIOU V.   +3 more
openaire   +3 more sources

Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function

Biochimie, 2020
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

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Journal of Pediatric Neurology
Flavia Maria Consuelo La Mendola, Tiziana Timpanaro, Daniela Caruso, Maria Teresa Garozzo, Santiago Presti, Cátia Romano, Elena R. Praticò, Antonio Zanghì, Raffaele Falsaperla   +8 more
openalex   +3 more sources