Results 141 to 150 of about 2,219 (171)

Somatic mutation analysis of mucin genes and pathways in idiopathic pulmonary fibrosis. [PDF]

Am J Respir Crit Care Med
Seo MK, Blumhagen R, Cho MH, Schwartz DA, Yun JH.   +4 more
europepmc   +1 more source

Integrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis. [PDF]

Front Immunol
A X, Xin P, Zheng L, Xu B, Wang J, Sun S, Xie J, Gao C, Pan P, Qiu G, Jin L, Shen J, Xu X, Cheng Y, Pei S, Ran L, Bian Y, Xiao L.   +17 more
europepmc   +1 more source

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing. [PDF]

Genes (Basel)
Chałupczyńska B, Ciara E, Halat-Wolska P, Pollak A, Stawiński P, Jurkiewicz D, Piekutowska-Abramczuk D, Gawlik M, Pietrasik J, Cieślikowska A, Wicher D, Ulatowska A, Jedlińska D, Borkowska J, Chmielewski D, Dunin-Wąsowicz D, Kotulska-Jóźwiak K, Chrzanowska K, Madej-Pilarczyk A.   +18 more
europepmc   +1 more source

Dysregulation of astrocyte-derived matrix gla protein impairs dendritic spine development in pyridoxine-dependent epilepsy. [PDF]

Mol Ther
Wu J, Qin D, Liang Z, Liu Q, Wang M, Guo Y, Guo W.   +6 more
europepmc   +1 more source

NSUN2-tRNA^Val-CAC-axis-regulated codon-biased translation drives triple-negative breast cancer glycolysis and progression. [PDF]

Cell Mol Biol Lett
Wang W, Ding Y, Zhao H, Wang S, Huang J, Sun L.   +5 more
europepmc   +1 more source

Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]

Front Mol Neurosci
Valderrama GV, Moreira GA, Arruda P.
europepmc   +1 more source

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]

Genetics, 2017
AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Pena Ia, Marc Ekker, David Dyment
exaly   +7 more sources

Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency [PDF]

Journal of Inherited Metabolic Disease
AbstractALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α‐Aminoadipic semialdehyde (α‐AASA) and Δ1‐piperideine‐6‐carboxylate (P6C), which accumulate because of the block in ...
Youssef Khalil, Philippa Mills
exaly   +6 more sources

Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense against Hyperosmotic Stress

Journal of Biological Chemistry, 2010
Mammalian ALDH7A1 is homologous to plant ALDH7B1, an enzyme that protects against various forms of stress, such as salinity, dehydration, and osmotic stress.
Udo Oppermann, Valeria V Orlova, Triantafyllos Chavakis   +2 more
exaly   +2 more sources

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

European Journal of Paediatric Neurology, 2018
Background: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay,
Elisa Bettella, Alessandra Murgia, Alberto Burlina   +2 more
exaly   +2 more sources