Results 51 to 60 of about 563 (109)

Missense and loss‐of‐function variants at GWAS loci in familial Alzheimer's disease

Alzheimer's &Dementia, Volume 20, Issue 11, Page 7580-7594, November 2024.
Abstract BACKGROUND Few rare variants have been identified in genetic loci from genome‐wide association studies (GWAS) of Alzheimer's disease (AD), limiting understanding of mechanisms, risk assessment, and genetic counseling. METHODS Using genome sequencing data from 197 families in the National Institute on Aging Alzheimer's Disease Family Based ...
Tamil Iniyan Gunasekaran, Dolly Reyes‐Dumeyer, Kelley M. Faber, Alison Goate, Brad Boeve, Carlos Cruchaga, Margaret Pericak‐Vance, Jonathan L. Haines, Roger Rosenberg, Debby Tsuang, Diones Rivera Mejia, Martin Medrano, Rafael A. Lantigua, Robert A. Sweet, David A. Bennett, Robert S. Wilson, Camille Alba, Clifton Dalgard, Tatiana Foroud, Badri N. Vardarajan, Richard Mayeux   +20 more
wiley   +1 more source

Genetic diversity promotes resilience in a mouse model of Alzheimer's disease

Alzheimer's &Dementia, Volume 20, Issue 4, Page 2794-2816, April 2024.
Abstract INTRODUCTION Alzheimer's disease (AD) is a neurodegenerative disorder with multifactorial etiology, including genetic factors that play a significant role in disease risk and resilience. However, the role of genetic diversity in preclinical AD studies has received limited attention.
Neelakshi Soni, Lindsay A. Hohsfield, Kristine M. Tran, Shimako Kawauchi, Amber Walker, Dominic Javonillo, Jimmy Phan, Dina Matheos, Celia Da Cunha, Asli Uyar, Giedre Milinkeviciute, Angela Gomez‐Arboledas, Katelynn Tran, Catherine C. Kaczorowski, Marcelo A. Wood, Andrea J. Tenner, Frank M. LaFerla, Gregory W. Carter, Ali Mortazavi, Vivek Swarup, Grant R. MacGregor, Kim N. Green   +21 more
wiley   +1 more source

The Alzheimer's Disease Neuroimaging Initiative in the era of Alzheimer's disease treatment: A review of ADNI studies from 2021 to 2022

Alzheimer's &Dementia, Volume 20, Issue 1, Page 652-694, January 2024.
Abstract The Alzheimer's Disease Neuroimaging Initiative (ADNI) aims to improve Alzheimer's disease (AD) clinical trials. Since 2006, ADNI has shared clinical, neuroimaging, and cognitive data, and biofluid samples. We used conventional search methods to identify 1459 publications from 2021 to 2022 using ADNI data/samples and reviewed 291 impactful ...
Dallas P. Veitch, Michael W. Weiner, Melanie Miller, Paul S. Aisen, Miriam A. Ashford, Laurel A. Beckett, Robert C. Green, Danielle Harvey, Clifford R. Jack Jr., William Jagust, Susan M. Landau, John C. Morris, Kwangsik T. Nho, Rachel Nosheny, Ozioma Okonkwo, Richard J. Perrin, Ronald C. Petersen, Monica Rivera Mindt, Andrew Saykin, Leslie M. Shaw, Arthur W. Toga, Duygu Tosun, for the Alzheimer's Disease Neuroimaging Initiative   +22 more
wiley   +1 more source

NAADP mobilizes calcium from acidic organelles through two-pore channels [PDF]

, 2009
Ca2+ mobilization from intracellular stores represents an important cell signalling process(1) that is regulated, in mammalian cells, by inositol-1,4,5-trisphosphate (InsP(3)), cyclic ADP ribose and nicotinic acid adenine dinucleotide phosphate (NAADP ...
Calcraft, PJ, Abdelilah Arredouani, Ruas, M., Evans, AM, Zhu, Yingmin, Kai-Ting Chuang, Xiao, R., Lydia Teboul, Arredouani, A., Cheng, X, Chuang, KT, Tang, J., Xiaotong Cheng, Rui Xiao, Cheng, Xiaotong, Arredouani, Abdelilah, Peihui Lin, Zhu, M. X., Ruas, M, Antony Galione, Parrington, J, Ma, J., Wang, Chunbo, Zhu, Y, Pan, Z., A. Mark Evans, Zhu, Michael X., Xiao, R, Zui Pan, Calcraft, Peter J., Wyatt, C. N., Xuemei Hao, Cheng, X., Parrington, John, Tang, Jisen, Teboul, Lydia, Hao, X., Galione, A., Jianjie Ma, Katja Rietdorf, Michael X. Zhu, Zhu, Y., Wyatt, Christopher N., Galione, A, Galione, Antony, Jisen Tang, John Parrington, Pan, Z, Rietdorf, K, Teboul, L., Lin, Peihui, Hao, X, Yakang Lin, Chunbo Wang, Ma, J, Hao, Xuemei, Wang, C, Rietdorf, K., Xiao, Rui, Calcraft, P. J., Lin, Yakang, Wang, C., Evans, A. Mark, Pan, Zui, Rietdorf, Katja, Ma, Jianjie, Tang, J, Lin, P, Yingmin Zhu, Zhu, MX, Chuang, K. T., Lin, P., Wyatt, CN, Margarida Ruas, Peter J. Calcraft, Christopher N. Wyatt, Evans, A. M., Ruas, Margarida, Lin, Y., Teboul, L, Chuang, Kai-Ting, Arredouani, A, Parrington, J., Lin, Y   +83 more
core   +1 more source

The challenging environment on board the International Space Station affects endothelial cell function by triggering oxidative stress through thioredoxin interacting protein overexpression: the ESA-SPHINX experiment.

, 2013
Exposure to microgravity generates alterations that are similar to those involved in age-related diseases, such as cardiovascular deconditioning, bone loss, muscle atrophy, and immune response impairment. Endothelial dysfunction is the common denominator.
G. Longinotti, L. Barenghi, J. A. Maier, S. Bradamante, S. Versari   +4 more
core   +1 more source

Increased expression of fatty-acid and calcium metabolism genes in failing human heart.

Background Heart failure (HF) involves alterations in metabolism, but little is known about cardiomyopathy-(CM)-specific or diabetes-independent alterations in gene expression of proteins involved in fatty-acid (FA) uptake and oxidation or in calcium ...
Portolés, Manuel, García Rúa, Vanessa, Rivera, Miguel, Brugada Terradellas, Josep, 1958-, Noguera Moreno, Teresa, Feijóo Bandín, Sandra, Francisco Otero, Manuel, Lear, Pamela Virginia, Mosquera Leal, Ana, Parrington, John, Calaza, Manuel, Rodríguez Penas, Diego, González-Juanatey, José R., Lago, Francisca, Álvarez Barredo, María   +14 more
core  

VEGF-induced neoangiogenesis is mediated by NAADP and two-pore channel 2-dependent Ca2+ signaling

, 2014
Vascular endothelial growth factor (VEGF) and its receptors VEGFR1/VEGFR2 play major roles in controlling angiogenesis, including vascularization of solid tumors. Here we describe a specific Ca(2+) signaling pathway linked to the VEGFR2 receptor subtype,
D. Del Bufalo, J. Parrington, GAMBARA, Guido, A. Galione, A. D'Alessio, FAVIA, ANNARITA, M. Desideri, FILIPPINI, Antonio, ESPOSITO, BIANCA, D'Alessio, Alessio, ZIPARO, Elio, PALOMBI, Fioretta, M. Ruas   +12 more
core   +1 more source

Table8_Identification of 4 autophagy-related genes in heart failure by bioinformatics analysis and machine learning.xlsx

IntroductionAutophagy refers to the process of breaking down and recycling damaged or unnecessary components within a cell to maintain cellular homeostasis.
Rui An (636731), Tongzheng Li (17862587), Yang Wang (5921), Qinchuan Yang (3022656), Jian Xu (31545), Xiwei Deng (17862584), Ziqi Yang (3338991)   +6 more
core   +1 more source

TPC1-dependent control of endosomal pH and transferrin uptake determines cellular iron status. [PDF]

Proc Natl Acad Sci U S A
Deutsch R, Jörs S, Klingl Y, Kudrina V, Menegaz D, Jaślan D, Serianz Z, Vogel A, Abrahamian C, Bhunia S, Tavhelidse-Suck T, Richter C, Wirth A, Urban N, Northoff B, Wilfert W, Klugbauer N, Bracher F, Keller M, Geisler F, Schaefer M, Teupser D, Holdt L, Belkaya S, Freichel M, Grimm C.   +25 more
europepmc   +1 more source

Endosomal TPC1-mediated Ca²⁺ nanodomains regulate transferrin receptor trafficking and iron homeostasis. [PDF]

Proc Natl Acad Sci U S A
Burton WJ, Lin A, Morgan AJ, Davis LC, Chen CC, Galione A.   +5 more
europepmc   +1 more source