Results 121 to 130 of about 1,896 (150)

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

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 ...
Izabella Pena, Marc Ekker, David A Dyment   +2 more
exaly   +6 more sources

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ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Journal of Pediatric Neurology, 2021
AbstractDespite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme that catalyzes the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-α ...
La Mendola, Flavia Maria Consuelo, Timpanaro, Tiziana, Caruso, Daniela, Garozzo, Maria Teresa, Presti, Santiago, Romano, Catia, Praticò, Elena R., Lombardo, Giulia, Zanghì, Antonio, Falsaperla, Raffaele   +9 more
openaire   +3 more sources

EPS8 Supports Pancreatic Cancer Growth by Inhibiting BMI1 Mediated Proteasomal Degradation of ALDH7A1

Experimental Cell Research, 2021
Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) is an enzyme catalyzing lipid peroxidation of fatty aldehydes. It plays a critical role in sustaining high oxygen consumption rate (OCR) and ATP production in pancreatic ductal adenocarcinoma (PADC).
Xiaowei Fu, Jun Meng
exaly   +3 more sources

Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function

Biochimie, 2021
Certain mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy (PDE), an autosomal recessive metabolic disease characterized by seizures, and in some cases, intellectual disability. The mutational spectrum of PDE is vast and includes over 70 missense mutations.
David A. Korasick, John J. Tanner
openaire   +2 more sources

The ALDH7A1 Genetic Polymorphisms Contribute to Development of Esophageal Squamous Cell Carcinoma

Tumor Biology, 2014
Although the entire etiology of esophageal squamous cell carcinoma (ESCC) is still unclear, alcohol drinking has been identified as a major environmental risk factor. The aldehyde dehydrogenase (ALDH) superfamily members are major enzymes involved in the alcohol-metabolizing pathways.
Ming Yang, Yunxia Ge, Wenting Pan
exaly   +3 more sources

Assessment of Urinary 6-Oxo-Pipecolic Acid as a Biomarker for ALDH7A1 Deficiency

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 ...
Viktor Kožich, Peter Theodore Clayton, Youssef Khalil   +2 more
exaly   +4 more sources