Results 61 to 70 of about 3,183 (188)

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

Annals of Neurology, 2007
AbstractRecently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal‐onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but ...
Salomons, G.S., Bok, L.A., Struys, E.A., Pope, L.L., Darmin, P.S., Mills, P.B., Clayton, P.T., Willemsen, M.A.A.P., Jakobs, C.   +8 more
openaire   +4 more sources

Characterization of aldehyde dehydrogenase isozymes in ovarian cancer tissues and sphere cultures [PDF]

, 2012
BACKGROUND: Aldehyde dehydrogenases belong to a superfamily of detoxifying enzymes that protect cells from carcinogenic aldehydes. Of the superfamily, ALDH1A1 has gained most attention because current studies have shown that its expression is associated ...
David Thompson, Hiroshi Tsuda, Junzheng Yang, Margit Singh, Ross S Berkowitz, Shu-Kay Ng, Shu-Wing Ng, Shubai Liu, Surendra Singh, Vasilis Vasiliou, William R Welch, Wing-Ping Fong, Yu-Ting Saw   +12 more
core   +1 more source

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Case Reports in Genetics, 2022
Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1.
Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon   +4 more
doaj   +1 more source

Zika virus infection reprograms global transcription of host cells to allow sustained infection. [PDF]

, 2017
Zika virus (ZIKV) is an emerging virus causally linked to neurological disorders, including congenital microcephaly and Guillain-Barré syndrome. There are currently no targeted therapies for ZIKV infection.
Bansal, Vikas, Dang, Jason, Lichinchi, Gianluigi, Qin, Yue, Rana, Tariq M, Tiwari, Shashi Kant   +5 more
core   +2 more sources

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy

Frontiers in Neuroscience, 2023
IntroductionGenetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects.
Bin Mao, Bin Mao, Na Lin, Na Lin, Danhua Guo, Danhua Guo, Deqin He, Deqin He, Huili Xue, Huili Xue, Lingji Chen, Lingji Chen, Qianqian He, Qianqian He, Min Zhang, Min Zhang, Meihuan Chen, Meihuan Chen, Hailong Huang, Hailong Huang, Liangpu Xu, Liangpu Xu   +21 more
doaj   +1 more source

The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractPyridoxine‐dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α‐aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α‐aminoadipic semialdehyde and piperideine‐6‐carboxylic acid.
Gunter Scharer, Chad Brocker, Vasilis Vasiliou, Geralyn Creadon‐Swindell, Renata C. Gallagher, Elaine Spector, Johan L.K. Van Hove   +6 more
openalex   +4 more sources

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

The Turkish Journal of Pediatrics, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +1 more source

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures

Scientific Reports, 2022
Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare developmental and epileptic encephalopathy (DEEs) with unknown etiology, and poor prognosis.
Haiyan Yang, Xiaofan Yang, Fang Cai, Siyi Gan, Sai Yang, Liwen Wu   +5 more
doaj   +1 more source

Single-cell entropy for accurate estimation of differentiation potency from a cell's transcriptome [PDF]

, 2017
The ability to quantify differentiation potential of single cells is a task of critical importance. Here we demonstrate, using over 7,000 single-cell RNA-Seq profiles, that differentiation potency of a single cell can be approximated by computing the ...
Enver, T, Teschendorff, AE
core   +1 more source