Results 181 to 188 of about 3,183 (188)

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

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
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

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 protects against ferroptosis by generating membrane NADH and regulating FSP1

Cell
Ferroptosis is a form of cell death due to iron-induced lipid peroxidation. Ferroptosis suppressor protein 1 (FSP1) protects against this death by generating antioxidants, which requires nicotinamide adenine dinucleotide, reduced form (NADH) as a cofactor.
Yang, Jia-Shu, Morris, Andrew J., Kamizaki, Koki, Chen, Jianzhong, Stark, Jillian, Oldham, William M., Nakamura, Toshitaka, Mishima, Eikan, Loscalzo, Joseph, Minami, Yasuhiro, Conrad, Marcus, Henry, Whitney S., Hsu, Victor W.   +12 more
openaire   +2 more sources

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Human Mutation, 2006
Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified as having definite, probable, or possible PDE.
Barbara, Plecko, Karl, Paul, Eduard, Paschke, Sylvia, Stoeckler-Ipsiroglu, Eduard, Struys, Cornelis, Jakobs, Hans, Hartmann, Thomas, Luecke, Matteo, di Capua, Christoph, Korenke, Christiane, Hikel, Elke, Reutershahn, Michael, Freilinger, Fritz, Baumeister, Friedrich, Bosch, Wolfgang, Erwa   +15 more
openaire   +2 more sources

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

European Journal of Paediatric Neurology, 2011
Pyridoxine-dependent seizures (PDS) is a rare disorder characterized by seizures resistant to anticonvulsants but controlled by daily pharmacologic doses of pyridoxine. Mutations in the antiquitin (ALDH7A1) gene have recently reported to cause PDS in most of patients.
N. S. Yeghiazaryan, STRIANO, PASQUALE, L. Spaccini, PEZZELLA, MARIANNA, D. Cassandrini, F. Zara, M. Mastrangelo   +6 more
openaire   +3 more sources

MLO02 Dysmorphology in patients with pyridoxine-dependent seizures and mutations of the antiquitin (Aldh7a1) gene

European Journal of Paediatric Neurology, 2007
M. Topcu, G. Haliloglu, K. Karli Oguz, E. Struys, G. Salomons, C. Jakobs, T. Coskun   +6 more
openaire   +1 more source