Results 101 to 110 of about 36,527 (232)

Unbiased Proteomic Approach Identifies Pathobiological Profiles in the Brains of Preclinical Models of Repetitive Mild Traumatic Brain Injury, Tauopathy, and Amyloidosis

ASN Neuro, 2020
No concerted investigation has been conducted to explore overlapping and distinct pathobiological mechanisms between repetitive mild traumatic brain injury (r-mTBI) and tau/amyloid proteinopathies considering the long history of association between TBI ...
Joseph O. Ojo, Gogce Crynen, Moustafa Algamal, Prashanti Vallabhaneni, Paige Leary, Benoit Mouzon, Jon M. Reed, Michael Mullan, Fiona Crawford   +8 more
doaj   +1 more source

Incidence and survival in non-hereditary amyloidosis in Sweden [PDF]

, 2012
BACKGROUND: Amyloidosis is a heterogeneous disease caused by deposition of amyloid fibrils in organs and thereby interfering with physiological functions.
Asta Försti, Jan Sundquist, Kari Hemminki, Kristina Sundquist, Xinjun Li   +4 more
core   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Alpha‐Actinin‐3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
This study links the ACTN3 R577X polymorphism to chronic kidney disease (CKD), specifically in patients undergoing hemodialysis (HD). In parallel, increased Actn3 expression in murine models of kidney injury supports a functional role for ACTN3 in renal pathophysiology.
Raisa B. Santos, Hellena Storch Vieira, Alice K. Scheer, Larissa R. Ribeiro, Cledia F. Silva, Rafael B. Orcy, Ines Schadock, Alexandre Budu, Ronaldo Carvalho Araujo, Augusto Schneider, André F. Rodrigues, Michael Bader, Maristela Böhlke, Carlos Castilho Barros   +13 more
wiley   +1 more source

Integrated Clinomics and Molecular Dynamics Simulation Approaches Reveal the SAA1.1 Allele as a Biomarker in Alkaptonuria Disease Severity

Biomolecules
Alkaptonuria (AKU) is a rare metabolic disorder characterized by the accumulation of homogentisic acid (HGA), leading to progressive ochronosis and joint degeneration.
Alfonso Trezza, Bianca Roncaglia, Anna Visibelli, Roberta Barletta, Luana Peruzzi, Barbara Marzocchi, Daniela Braconi, Ottavia Spiga, Annalisa Santucci   +8 more
doaj   +1 more source

The role of the Amyloid Precursor Protein mutations and PERK-dependent signaling pathways in the pathogenesis of Alzheimer’s disease [PDF]

, 2016
Alzheimer’s disease (AD) is a highly complex, progressive, age-related neurodegenerative human disease entity. The genetic basis of AD is strictly connected with occurrence of mutations in Amyloid Precursor (APP) gene on chromosome 21.
Diehl, J. Alan, Lewko, Dawid, Majsterek, Ireneusz, Nowak, Alicja, Pytel, Dariusz, Rozpędek, Wioletta   +5 more
core   +1 more source

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, Volume 13, Issue 8, 9 February 2026.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 more
wiley   +1 more source

Cellular internalization of alpha-synuclein aggregates by cell surface heparan sulfate depends on aggregate conformation and cell type. [PDF]

, 2017
Amyloid aggregates found in the brain of patients with neurodegenerative diseases, including Alzheimer's and Parkinson's disease, are thought to spread to increasingly larger areas of the brain through a prion-like seeding mechanism.
Esko, Jeffrey D, Ihse, Elisabet, Lawrence, Roger, Masliah, Eliezer, van Wijk, Xander M, Yamakado, Hodaka   +5 more
core   +2 more sources

Transplantation of GABAergic Interneuron Progenitors Restores Cortical Circuit Function in an Alzheimer's Disease Mouse Model

Advanced Science, Volume 13, Issue 9, 13 February 2026.
Transplantation of medial ganglionic eminence (MGE) interneuron progenitors into APP/PS1 cortices restored the slow oscillation characteristic of Alzheimer's disease. Donor cells survived, migrated, and matured into functional GABAergic interneurons, forming synaptic connections.
Shinya Yokomizo, Megi Maci, April M. Stafford, Morgan R. Miller, Stephen J. Perle, Shuzo Inagaki, Shusaku Takahashi, Heather Brown‐Harding, Linda Liang, Alex Lovely, Moustafa Algamal, Rebecca L. Gillani, Theodore J. Zwang, Douglas Richardson, Janice R. Naegele, Daniel Vogt, Ksenia V. Kastanenka   +16 more
wiley   +1 more source

Monoclonal gammopathy of renal significance: Diagnostic workup [PDF]

, 2017
The clinical spectrum of diseases associated with monoclonal gammopathies is wide and they are most commonly the consequence of renal deposition of monoclonal immunoglobulin or its components.
Cabrita, A., Correia, S., Malheiro, J., Martins, L., Santos, J., Santos, S.   +5 more
core   +1 more source