Results 71 to 80 of about 3,183 (188)

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency [PDF]

, 2020
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation.
Abdenur, Jose E., Ashmore, Catherine, Boemer, Francois, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Coughlin, Curtis R., Das, Anibh, Dekker, Hanka, Evangeliou, Athanasios, Feillet, Francois, Footitt, Emma J., Gospe, Sidney M., Hartmann, Hans, Kara, Majdi, Kristensen, Erle, Lee, Joy, Lilje, Rina, Longo, Nicola, Lunsing, Roelineke J., Mills, Philippa, Papadopoulou, Maria T., Pearl, Phillip L., Piazzon, Flavia, Plecko, Barbara, Saini, Arushi G., Santra, Saikat, Sjarif, Damayanti R., Stockler-Ipsiroglu, Sylvia, Striano, Pasquale, Tseng, Laura A., Van Hove, Johan L. K., van Karnebeek, Clara D. M., Verhoeven-Duif, Nanda M., Wijburg, Frits A., Zuberi, Sameer M.   +36 more
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy [PDF]

Journal of Inherited Metabolic Disease, 2018
AbstractPyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the
Curtis R. Coughlin, Michael A. Swanson, Elaine Spector, Naomi J. L. Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D. M. van Karnebeek, Sidney M. Gospe, Verena G. Aziz, Becky P. Tsai, Hanlin Gao, Peter L. Nagy, Keith Hyland, Silvy J. M. van Dooren, Gajja S. Salomons, Johan L. K. Van Hove   +16 more
openaire   +4 more sources

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

Genetic basis of hyperlysinemia [PDF]

, 2013
Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported.
Augoustides-Savvopoulou, P. (Persa), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Denis, S. (Simone), Duran, M. (Marinus), Houten, S.M. (Sander M.), Häberle, J. (Johannes), Klerk, J.B.C. (Johannes) de, Knegt, A.C. (Alida), Poll-The, B.T., Ruiter, J.P.N. (Jos), Sass, J.O. (Jörn Oliver), Te Brinke, H. (Heleen), Wanders, R.J.A. (Ronald), Zschocke, J. (Johannes)   +14 more
core   +1 more source

Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid–Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction

Advanced Science, EarlyView.
An age‐adapted therapy pairs δ‐Amyrenone, a CBX7 inhibitor, with an alginate hydrogel (CSAδ) to rescue infarcted elderly hearts. CSAδ disrupts CBX7–ATP7A liquid–liquid phase separation, restores ATP7A trafficking and copper efflux, suppresses cuproptosis, supplies oxygen, scavenges ROS, promotes M2 polarization, supports angiogenesis, and enhances ...
Jun Liu, Peng Qu, Jiao Shi, Tingting Liang, Yao Gu, Xue Li, Cui Ma, Danyang Zhao, Feila Liu, Qi Liang, Panke Cheng, Qian Lei   +11 more
wiley   +1 more source

Metabolite biomarker discovery for metabolic diseases by flux analysis [PDF]

, 2012
Metabolites can serve as biomarkers and their identification has significant importance in the study of biochemical reaction and signalling networks.
Ching, WK, Jiang, H, Li, L, Vassiliadis, VS   +3 more
core   +1 more source

Efferocytosis‐Driven Polyamine Metabolism in Macrophages Enhances Cancer Stem Cell Enrichment after Chemotherapy in Ovarian Cancer

Advanced Science, EarlyView.
Chemotherapy‐induced efferocytosis drives ovarian cancer stem cell enrichment. By engulfing apoptotic cancer cells, macrophages upregulate ODC1 and produce putrescine, which elevates osteopontin (OPN) expression. Secreted OPN then activates the CD44 receptor on cancer cells, promoting stemness and chemoresistance.
Wenhan Li, Feiquan Ying, Xinkai Pang, Qiulei Wu, Guoqing Li, Lin Huang, Jiayu Xin, Xiaoli Liu, Pan Liu, Xiaohan Xu, Shuran Tan, Yumei Gao, Tong Liu, Si Sun, Xiaoman Wang, Yiping Wen, Liqiong Cai, Shi Du, Yuan Zhang, Jing Cai   +19 more
wiley   +1 more source

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.
Haiyong, Wang, Lei, Tong, Jinyu, Wei, Wenting, Pan, Lichao, Li, Yunxia, Ge, Liqing, Zhou, Qipeng, Yuan, Changchun, Zhou, Ming, Yang   +9 more
openaire   +2 more sources

A glycolysis-based three-gene signature predicts survival in patients with lung squamous cell carcinoma

BMC Cancer, 2021
Background Lung cancer is one of the most lethal and most prevalent malignant tumors worldwide, and lung squamous cell carcinoma (LUSC) is one of the major histological subtypes.
Guichuan Huang, Jing Zhang, Ling Gong, Yi Huang, Daishun Liu   +4 more
doaj   +1 more source

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) [PDF]

, 2017
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system ...
Antonarakis, Stylianos E., Atzori, Cristiana, Brusco, Alfredo, Brussino, Alessandro, Canale, Claudio, Di Gregorio, Eleonora, Ferrera, Denise, Ferrero, Enza, Gasparini, Laura, Giorgio, Elisa, Guipponi, Michel, Imperiale, Daniele, Pennacchio, Len A., Robyr, Daniel, Santoni, Federico, Spielmann, Malte, Stamoulis, Georgios, Vaula, Giovanna   +17 more
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