Results 151 to 160 of about 2,219 (171)

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
Sidney M Gospe, Craig Bennett
exaly   +2 more sources

The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma

Tumor Biology, 2014
Although the entire etiology of esophageal squamous cell carcinoma (ESCC) is still unclear, alcohol drinking has been identified as a major environmental risk factor. The aldehyde dehydrogenase (ALDH) superfamily members are major enzymes involved in the alcohol-metabolizing pathways.
Qipeng Yuan, Ming Yang, Wenting Pan
exaly   +3 more sources

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EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1

Experimental Cell Research, 2021
Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) is an enzyme catalyzing lipid peroxidation of fatty aldehydes. It plays a critical role in sustaining high oxygen consumption rate (OCR) and ATP production in pancreatic ductal adenocarcinoma (PADC).
Xiaowei Fu, Jun Meng
exaly   +3 more sources

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

Biochimie, 2021
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
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Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

Molecular Genetics and Metabolism, 2012
We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a ...
Milh, M., Pop, A., Kanhai, W., Villeneuve, N., Cano, A., Struijs, E.A., Salomons, G.S., Chabrol, B., Jakobs, C.A.J.M.   +8 more
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Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice

Cell Reports
Lysine metabolism converges at α-aminoadipic semialdehyde dehydrogenase (ALDH7A1). Rare loss-of-function mutations in ALDH7A1 cause a toxic accumulation of lysine catabolites, including piperideine-6-carboxylate (P6C), that are thought to cause fatal seizures in children unless strictly managed with dietary lysine reduction.
Seth Parker, Blair R Leavitt
exaly   +3 more sources

ALDH7A1 Expression is Associated with Recurrence in Patients with Surgically Resected Non-Small-Cell Lung Carcinoma [PDF]

Future Oncology, 2013
The purpose of this study was to describe the prognostic significance of ALDH7A1 in surgically treated non-small-cell lung carcinoma. (NSCLC).We immunohistochemically analyzed ALDH7A1 expression in surgically resected NSCLC from 89 patients using a tissue microarray.ALDH7A1 staining was positive in 43 patients and negative in 44 patients, with two ...
Heidi Chen, Bo Lu, Robert Den
exaly   +3 more sources

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene

Paediatrics and International Child Health, 2013
Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l.
Jagadeesh, S., Suresh, B., Murugan, V., Suresh, S., Salomons, G.S., Struys, E.A., Jacobs, C.   +6 more
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Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]

Seizure: the Journal of the British Epilepsy Association, 2018
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.
Eliane Chouery, André Mégarbane
exaly   +3 more sources

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

Neurological Sciences, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6).
Savina, Tincheva, Tihomir, Todorov, Albena, Todorova, Ralica, Georgieva, Dimitar, Stamatov, Iglika, Yordanova, Tanya, Kadiyska, Bilyana, Georgieva, Maria, Bojidarova, Genoveva, Tacheva, Ivan, Litvinenko, Vanyo, Mitev   +11 more
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