Results 91 to 100 of about 1,820 (150)

Mitochondrial proteome landscape unveils key insights into melanoma severity and treatment strategies

Cancer, Volume 131, Issue 13, 1 July 2025.
This study uses comprehensive quantitative proteomics of 151 melanoma‐related samples to demonstrate that the upregulation of mitochondrial translation and oxidative phosphorylation is intricately linked to tumor aggressiveness, treatment resistance, and poor clinical outcomes.
Yonghyo Kim, Viktória Doma, Uğur Çakır, Magdalena Kuras, Lazaro Hiram Betancourt, Indira Pla, Aniel Sanchez, Yutaka Sugihara, Roger Appelqvist, Henriett Oskolas, Boram Lee, Jéssica Guedes, Gustavo Monnerat, Gabriel Reis Alves Carneiro, Fábio C. S. Nogueira, Gilberto B. Domont, Johan Malm, Bo Baldetorp, Elisabet Wieslander, István Balázs Németh, A. Marcell Szász, Runyu Hong, Krzysztof Pawłowski, Melinda Rezeli, Ho Jeong Kwon, Jozsef Timar, David Fenyö, Sarolta Kárpáti, György Marko‐Varga, Jeovanis Gil   +29 more
wiley   +1 more source

Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

JIMD Reports
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 more
doaj   +1 more source

How to Reproduce in the Siberian Winter: Proteome Dynamics Reveals the Timing of Reproduction‐Related Processes in an Amphipod Species Endemic to Lake Baikal

Ecology and Evolution, Volume 15, Issue 7, July 2025.
The vast Lake Baikal in Siberia is located in a region with a continental climate, implying pronounced seasonal temperature differences. Remarkably, reproducing during the extremely cold winters when the lake is covered by a thick ice layer is a common trait in Baikal's endemic littoral amphipods.
Polina Lipaeva, Polina Drozdova, Kseniya Vereshchagina, Lena Jakob, Kristin Schubert, Daria Bedulina, Till Luckenbach   +6 more
wiley   +1 more source

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study [PDF]

, 2021
Marin Strijker, Laura A. Tseng, Lisanne K van Avezaath, Maureen A. M. Oude Luttikhuis, Thomas Ketelaar, Curtis R. Coughlin, Maraike A. Coenen, Francjan J. van Spronsen, Monique Williams, Maaike C. de Vries, Henriëtte E. Westerlaan, Levinus A. Bok, Clara D.M. van Karnebeek, Roelineke J. Lunsing   +13 more
openalex   +1 more source

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy

Frontiers in Pediatrics, 2019
Purpose: To evaluate the effects of a single oral dose of pyridoxine on lysine metabolites including α-aminoadipic semialdehyde (a-AASA), piperideine-6-carboxylate (P6C), the sum of AASA and P6C (AASA-P6C), pipecolic acid (PA), and α-aminoadipic acid (α ...
Junjuan Wang, Junjuan Wang, Jiao Xue, Pan Gong, Minhang Wu, Wenshuang Yang, Shiju Jiang, Ye Wu, Yuwu Jiang, Yuehua Zhang, Tatiana Yuzyuk, Tatiana Yuzyuk, Hong Li, Zhixian Yang   +13 more
doaj   +1 more source

Pyridoxine dependent epilepsies: new therapeutical point of view

Italian Journal of Pediatrics, 2017
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration.
Raffaele Falsaperla, Giovanni Corsello
doaj   +1 more source

A proteomic analysis of an in vitro knock-out of miR-200c

Scientific Reports, 2018
Loss of miR-200c is correlated to advanced cancer-subtypes due to increased EMT and decreased treatment efficacy by chemotherapeutics. As miRNAs regulate a multitude of targets, the analysis of differentially expressed proteins upon a genomic knock-out ...
Bojan Ljepoja, Jonathan García-Roman, Ann-Katrin Sommer, Thomas Fröhlich, Georg J. Arnold, Ernst Wagner, Andreas Roidl   +6 more
doaj   +1 more source

PO-273 Aldehyde dehydrogenase 7A1 (ALDH7A1) contributes to reduction of reactive oxygen species generation in colorectal tumour microenvironment [PDF]

, 2018
Lina Elsalem, Simon J. Allison, Roger M. Phillips, Klaus Pors   +3 more
openalex   +1 more source

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

The Turkish Journal of Pediatrics, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
doaj  

Structure of ALDH7A1 mutant W175A complexed with L-pipecolic acid

, 2019
Adrian R. Laciak, David A. Korasick, Jesse W. Wyatt   +2 more
openalex   +2 more sources