Results 51 to 60 of about 3,294 (160)

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

The Journal of Physiology, EarlyView.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires, Matheus Naia Fioretto, Marcel Rodrigues Ferreira, Isabelle Tenori Ribeiro, Luísa Annibal Barata, Flávia Alessandra Maciel, Lucas Sobrinho Lemos, Renato Mattos, Luiz Marcos Frediane Portela, Patrick Vieira de Souza, Luisa Correia Gomes, Gustavo Monezzi Cordeiro, Wellerson Rodrigo Scarano, Patrícia Aline Boer, Jose Antonio Rocha Gontijo, Luis Antonio Justulin   +15 more
wiley   +1 more source

Pathogenic Variants in HEPACAM Alter Protein Localization and Interactome in Astrocytes of the Developing Mouse Cortex

Glia, Volume 74, Issue 11, November 2026.
Pathogenic variants alter hepaCAM protein distribution. Astrocyte‐specific hepaCAM TurboID reveals KCNQ2 as a new interaction partner. Pathogenic variants alter hepaCAM association with key transmembrane proteins. ABSTRACT Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early‐onset macrocephaly,
Robert W. Lewis, Breana C. Dogan, Amy L. Stanek, Elliot B. Evans, Madelyn G. Coble, Hayli E. Spence‐Osorio, Karen L. G. Farizatto, Angie L. Mordant, C. Allie Mills, Laura E. Herring, Katherine T. Baldwin   +10 more
wiley   +1 more source

Multicilia dynamically transduce Sonic Hedgehog signaling to regulate choroid plexus functions

Cell Reports
Summary: The choroid plexus is a major site for cerebrospinal fluid (CSF) production, characterized by a multiciliated epithelial monolayer that regulates CSF production.
Suifang Mao, Rui Song, Shibo Jin, Song Pang, Aleksandra Jovanovic, Adam Zimmerman, Peng Li, Xinying Wu, Michael F. Wendland, Kerry Lin, Wei-Chi Chen, Semil P. Choksi, Gang Chen, Michael J. Holtzman, Jeremy F. Reiter, Ying Wan, Zhenyu Xuan, Yang K. Xiang, C. Shan Xu, Srigokul Upadhyayula, Harald F. Hess, Lin He   +21 more
doaj   +1 more source

New CACNA1A deletions are associated to migraine phenotypes

The Journal of Headache and Pain, 2018
Background Familial hemiplegic migraine type 1 (FHM1) is a form of migraine with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity is expected.
G. S. Grieco, S. Gagliardi, I. Ricca, O. Pansarasa, M. Neri, F. Gualandi, G. Nappi, A. Ferlini, C. Cereda   +8 more
doaj   +1 more source

The Maintenance of Dysmyelinated Small‐Diameter Axons by 14‐3‐3s in the Central Nervous System

Glia, Volume 74, Issue 11, November 2026.
Dysmyelinated small‐diameter axons are maintained in teneurin‐4 deficient mice at the age of 1 year, while axonal damage is observed. 14‐3‐3s are highly expressed and suppress the progression of the damage in these axons. ABSTRACT In the central nervous system, myelin formed around nerve axons by oligodendrocyte enables efficient conduction of action ...
Nanako Yamada, Hinako Saito, Riko Takahashi, Mio Fujisato, Yukina Hosoda, Binri Sasaki, Momona Yamada, Sakurako Abe, Chikako Hayashi, Akira Yoshimoto, Ryunosuke Ohkawa, Tomal Julian Matt, Florence M Bareyre, Stefan Berghoff, Mikael Simons, Nobuharu Suzuki   +15 more
wiley   +1 more source

ATP1A2-related epileptic encephalopathy and movement disorder:Clinical features of three novel patients [PDF]

ObjectiveVariants in the ATP1A2 gene exhibit a wide clinical spectrum, ranging from familial hemiplegic migraine to childhood epilepsies and early infantile developmental epileptic encephalopathy (EIDEE) with movement disorders.
Lince-Rivera, Isabella, Rubboli, Guido, Gómez, Jorge Luis Ramón, De la Rosa, Sebastián Ortiz, Córdoba, Natalia Martínez   +4 more
core   +1 more source

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.

, 2005
A missense mutation in the gene encoding the alpha(2) subunit of the Na(+),K(+) ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC).
Boneschi FM, ARIDON, Paolo, GUERRINI R, Comi G., De Fusco M., MARTINELLI BONESCHI F, CASARI G., MARINI C, Aridon P, ZARA F, DE FUSCO M, Aridon P., Guerrini R., Boneschi F. M., Zara F., COMI G, Marini C., Casari G   +17 more
core   +1 more source

Cell Surface Markers Identify Astrocyte Subpopulations in the Adult Hippocampus With a Heterogeneous Response to Aging

Glia, Volume 74, Issue 11, November 2026.
ATP1B2 and GLAST identify two astrocyte subpopulations in the hippocampus with distinct molecular signatures. Transcriptomic shifts during aging differ between both subpopulations. Aged ATP1B2+ astrocytes rewire their metabolism while double‐positive aged astrocytes display a reduced synaptogenic capability.
Lucía Casares‐Crespo, Marife Cano‐Jaimez, Raquel Anta, Alba Ripollés‐Boix, Fabián Robledo‐Yagüe, Sheila Zúñiga‐Trejos, Helena Mira   +6 more
wiley   +1 more source

Investigation of SNPs in the ATP1A2, CA3and DECR1 genes mapped to porcine chromosome 4: analysis in groups of pigs divergent for meat production and quality traits

Italian Journal of Animal Science, 2010
Three genes (ATPase, Na+/K+transporting, α2(+) polypeptide, ATP1A2; carbonic anhydrase III, CA3; 2,4- dienoyl CoA reductase 1, mitochondrial, DECR1), isolated from a porcine skeletal muscle cDNA library and mapped on porcine chromosome 4 (SSC4 ...
Vincenzo Russo, Luca Buttazzoni, Emilio Scotti, Irma Nisi, Silvia Braglia, Luca Fontanesi, Roberta Davoli   +6 more
doaj   +1 more source

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine. [PDF]

, 2005
Contains fulltext : 48486.pdf (Publisher’s version ) (Open Access)Migraine is a recurrent neurovascular disease. Its two most common forms-migraine without aura (MO) and migraine with aura (MA)-both show familial clustering and a ...
Jurkat-Rott, Karin, Zifarelli, Giovanni, Gobel, H., Todt, U., Zumbroich, V., Heinze, Axel, Göbel, Hartmut, Koenderink, J., Goebel, Ingrid, Kubisch, Christian, Zumbroich, Vera, Todt, Unda, Stiller, Anne, Koenderink, J.B., Koenderink, Jan B., Friedrich, Thomas, Ramirez, A., Stiller, A., Friedrich, T., Goebel, I., Heinze, A., Kubisch, C., Dichgans, Martin, Ramirez, Alfredo, Dichgans, M., Jurkat-Rott, K., Zifarelli, G.   +26 more
core   +1 more source