Results 161 to 170 of about 2,219 (171)

Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene

Gene, 2013
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures and therapeutic response to pharmacological dose of pyridoxine. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde (α-AASA) dehydrogenase (antiquitin), have been reported to cause PDE in most patients. In this study molecular analysis of
Abdelaziz, Tlili, Nadia, Hamida Hentati, Rim, Chaabane, Abdellatif, Gargouri, Faiza, Fakhfakh   +4 more
openaire   +2 more sources

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

Molecular Genetics and Metabolism, 2007
Pyridoxine dependent seizure (PDS) is a disorder of neonates or infants with autosomal recessive inheritance characterized by seizures, which responds to pharmacological dose of pyridoxine. Recently, mutations have been identified in the ALDH7A1 gene in Caucasian families with PDS.
Junko, Kanno, Shigeo, Kure, Ayumi, Narisawa, Fumiaki, Kamada, Masaru, Takayanagi, Katsuya, Yamamoto, Hisao, Hoshino, Tomohide, Goto, Takao, Takahashi, Kazuhiro, Haginoya, Shigeru, Tsuchiya, Fritz A M, Baumeister, Yuki, Hasegawa, Yoko, Aoki, Seiji, Yamaguchi, Yoichi, Matsubara   +15 more
openaire   +2 more sources

ALDH7A1 is a protein that protects Atlantic salmon against Aeromonas salmonicida at the early stages of infection

Fish & Shellfish Immunology, 2017
Aldehyde dehydrogenases (ALDHs) belong to a super-family of detoxifying proteins and perform a significant role in developing epithelial homeostasis, protecting cells from toxic aldehydes and drug resistance. However, the activity and function of these detoxifying proteins remain unknown, especially in fish. In our research, we aimed to study functions
Peng-fei Liu, Yishuai Du, Lingjie Meng, Xian Li, Ying Liu   +4 more
openaire   +2 more sources

Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1

Chemico-Biological Interactions
Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes a step of lysine catabolism. Certain missense mutations in the ALDH7A1 gene cause pyridoxine dependent epilepsy (PDE), a rare autosomal neurometabolic disorder with recessive inheritance that affects almost 1:65,000 live births and is classically characterized by recurrent seizures from the neonatal period.
David A. Korasick, David P. Buckley, Alessandra Palpacelli, Ida Cursio, Elisabetta Cesaroni, Jianlin Cheng, John J. Tanner   +6 more
openaire   +2 more sources

Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Brain and Development, 2020
Ching-Shiang Chi
exaly  

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Journal of Pediatric Neurology
Flavia M.C. LA MENDOLA, Tiziana TIMPANARO, Daniela CARUSO, Maria Teresa GAROZZO, Santiago PRESTI, Catia ROMANO, Elena R. PRATICÒ, Antonio ZANGHÌ, Raffaele Falsaperla   +8 more
openaire   +1 more source

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

European Journal of Paediatric Neurology, 2011
Federico Zara, Denise Cassandrini, Pasquale Striano   +2 more
exaly  

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet

European Journal of Paediatric Neurology, 2014
Saadet Mercimek-Mahmutoglu, Keith Hyland, Eva Mamak   +2 more
exaly  

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy

Molecular Biology Reports, 2012
Mehdi Fakhfakh, Abdelaziz Tlili
exaly  

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures

Epilepsia, 2009
Pasquale Striano
exaly