Results 41 to 50 of about 2,694,828 (149)

Metabolic enzymes expressed by cancer cells impact the immune infiltrate

OncoImmunology, 2019
The expression of two metabolic enzymes, i.e., aldehyde dehydrogenase 7 family, member A1 (ALDH7A1) and lipase C, hepatic type (LIPC) by malignant cells, has been measured by immunohistochemical methods in non-small cell lung carcinoma (NSCLC) biopsies ...
Gautier Stoll, Margerie Kremer, Normal Bloy, Adrien Joseph, Maria Castedo, Guillaume Meurice, Christophe Klein, Lorenzo Galluzzi, Judith Michels, Guido Kroemer   +9 more
doaj   +1 more source

Primers required for the amplification of the human ALDH7A1 gene.

, 2014
Primers required for the amplification of the human ALDH7A1 gene.
Xiaoling Yang (27940), Yuwu Jiang (330637), Zhixian Yang (541835), Yuehua Zhang (541836), Hui Xiong (541837), Ye Wu (171928), Jiong Qin (541838), Jingmin Wang (171933)   +7 more
core   +1 more source

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]

, 2017
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in ...
Garrett Bullivant, Zheng Ping Jia, Matilde Fernandez Ojeda, James J. Dowling, Saadet Mercimek-Andrews, Gajja S. Salomons, James J Dowling, Nikita Zabinyakov, Gajja S Salomons, Xiao-Yan Wen, Feng Cao   +10 more
core   +1 more source

TCA cycle metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.

, 2021
TCA cycle metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
Anastasia Minenkova (11408438), Rob Barto (11408447), Saadet Mercimek-Andrews (4526929), Thomas Hurd (11408450), Erwin E. W. Jansen (11408441), Jessie Cameron (11408444), Gajja S. Salomons (4526917), Lauren MacNeil (397730)   +7 more
core   +1 more source

A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +1 more source

Association analysis of polymorphic variants in ALDH7A1, AOC1, PSAP, ADCYAP1 genes involved in the histamine metabolism with asthma development in individuals from the republic of Bashkortostan

Якутский медицинский журнал
Many environmental and genetic factors are involved in asthma development, among which an important role in the disease formation and response to antihistamine therapy belongs to genes involved in the histamine metabolism (HRH1, HRH2, HRH3, HRH4, HDC ...
O. N. Savelieva, A. S. Karunas, Yu. Yu. Fedorova, A. O. Vlasova, A. R. Biktasheva, R. F. Gatiyatullin, E. I. Etkina, E. K. Khusnutdinova   +7 more
doaj   +1 more source

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency [PDF]

, 2020
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway.
Al-Shekaili, Hilal H, Petkau, Terri L, Leavitt, Blair R, Verhoeven-Duif, Nanda M, Kema, Ido P; id_orcid, van Faassen, Martijn; id_orcid, Simpson, Elizabeth M, Lengyell, Tess C., Petkau, Terri L., Lengyell, Tess C, Bosma, Marjolein, Ciapaite, Jolita, van Karnebeek, Clara, Pena, Izabella, Horvath, Gabriella, Ross, Colin, Friedman, Jan M, Leavitt, Blair R., Ciapaite, J., Al-Shekaili, H.H., Pena, I.A., Verhoeven-Duif, N., Karnebeek, C.D. van   +22 more
core   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

Decreased levels of vitamin B6 vitamers in aldh7a1 knock-out 11 dpf embryos relative to age-matched wildtype control embryos.

, 2021
Vitamin B6 vitamers levels are reduced in aldh7a1 homozygous knock-out embryos relative to the wildtype. It is shown in a scatterplot of quantification of the levels of vitamin B6 vitamers in aldh7a1 homozygous knock-out zebrafish relative to the ...
Anastasia Minenkova (11408438), Rob Barto (11408447), Saadet Mercimek-Andrews (4526929), Thomas Hurd (11408450), Erwin E. W. Jansen (11408441), Jessie Cameron (11408444), Gajja S. Salomons (4526917), Lauren MacNeil (397730)   +7 more
core   +1 more source

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source