Results 131 to 140 of about 1,896 (150)

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
openaire   +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 ...
Bo Lu, Robert B. Den, Pierre P. Massion
exaly   +3 more sources

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 J Parker, Morgan Towriss, Muna Abedrabbo   +2 more
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
openaire   +4 more sources

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 Mégarbané, Nadine Jalkh   +2 more
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
openaire   +2 more sources

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