Results 131 to 140 of about 1,820 (150)

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban
Jiao X, Gong P, Niu Y, Xu Z, Zhou Z, Yang Z.   +5 more
europepmc   +1 more source

Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy. [PDF]

Sci Adv
Yan J, Wu J, Xu M, Wang M, Guo W.
europepmc   +1 more source

Comprehensive analysis of mitochondrial energy metabolism-related genes and immune infiltration in intervertebral disk degeneration. [PDF]

Medicine (Baltimore)
Lv J, Wang Z.
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility. [PDF]

Elife
Debaenst S, Jarayseh T, De Saffel H, Bek JW, Boone M, Josipovic I, Kibleur P, Kwon RY, Coucke PJ, Willaert A.   +9 more
europepmc   +1 more source

A comprehensive analysis of the tryptophan metabolism-related gene signature to predict the prognosis of esophageal squamous cell carcinoma based on multi-omics. [PDF]

Front Mol Biosci
Wu Z, Liu Z, Wang Y, Teng G, Li X, Lu T, Hu F, Wu S, Ma G, Zhang H.   +9 more
europepmc   +1 more source

Towards a kingdom of reproductive life - the core sperm proteome. [PDF]

Reproduction
Pini T, Nixon B, Karr TL, Teperino R, Sanz-Moreno A, da Silva-Buttkus P, Tüttelmann F, Kliesch S, Gailus-Durner V, Fuchs H, Marschall S, Hrabě de Angelis M, Skerrett-Byrne DA.   +12 more
europepmc   +1 more source

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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
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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).
Mingzhu Tan, Jun Meng, Xiaojuan Sun, Xiaowei Fu, Ruihao Wang   +4 more
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